Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Abnormal muscle tone (HP:0003808)help
..Starting node
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Hypotonia (HP:0001252)help
Term ID: 1252
Name: Hypotonia
Synonym: Central hypotonia; Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia; Peripheral hypotonia
Definition: Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Comments:
Reference: HP:0001252
Genes and Diseases:
 
       Child Nodes:
........expandFacial hypotonia (HP:0000297) help
........expandGeneralized hypotonia (HP:0001290) help
................... HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction
................... HP:0006852 Episodic generalized hypotonia
........expandNeonatal hypotonia (HP:0001319) help
................... HP:0006830 Severe neonatal hypotonia in males
................... HP:0008935 Generalized neonatal hypotonia
........expandSevere muscular hypotonia (HP:0006829) help
........expandMuscular hypotonia of the trunk (HP:0008936) help
................... HP:0009062 Infantile axial hypotonia
........expandInfantile muscular hypotonia (HP:0008947) help
................... HP:0009062 Infantile axial hypotonia
........expandAppendicular hypotonia (HP:0012389) help
........expandOral motor hypotonia (HP:0030190) help
........expandFrog-leg posture (HP:0031139) help

 Sister Nodes: 
..expandHypertonia (HP:0001276) help
..expandobsolete Central hypotonia (HP:0011398) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001252HP:0001252Hypotonia0A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0001252Hypotonia0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0001252Hypotonia0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0001252Hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0001252Hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0001252Hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0001252Hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0001252Hypotonia0ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0001252Hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0001252Hypotonia0ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0001252Hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0001252Hypotonia0ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0001252Hypotonia0ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0001252Hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0001252Hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0001252Hypotonia0AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0001252Hypotonia0AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0001252Hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0001252Hypotonia0ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0001252Hypotonia0ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0001252Hypotonia0ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0001252Hypotonia0ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0001252Hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0001252Hypotonia0AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0001252Hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0001252Hypotonia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0001252Hypotonia0APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0001252Hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0001252Hypotonia0AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0001252Hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0001252Hypotonia0ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0001252Hypotonia0ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0001252Hypotonia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0001252Hypotonia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0001252Hypotonia0ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0001252Hypotonia0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0001252Hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0001252Hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0001252Hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0001252Hypotonia0ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0001252Hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0001252Hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0001252Hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0001252Hypotonia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0001252Hypotonia0B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0001252Hypotonia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0001252Hypotonia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0001252Hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0001252Hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0001252Hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0001252Hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0001252Hypotonia0BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0001252Hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0001252Hypotonia0CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0001252Hypotonia0CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0001252Hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0001252Hypotonia0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0001252Hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0001252Hypotonia0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0001252Hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0001252Hypotonia0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0001252Hypotonia0CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0001252Hypotonia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0001252Hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0001252Hypotonia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0001252Hypotonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0001252Hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0001252Hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0001252Hypotonia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0001252Hypotonia0CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0001252Hypotonia0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0001252Hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0001252Hypotonia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0001252Hypotonia0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0001252Hypotonia0COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0001252Hypotonia0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0001252Hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0001252Hypotonia0COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0001252Hypotonia0COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0001252Hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0001252Hypotonia0COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0001252Hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0001252Hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0001252Hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0001252Hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0001252Hypotonia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0001252Hypotonia0CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0001252Hypotonia0CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0001252Hypotonia0CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0001252Hypotonia0CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0001252Hypotonia0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0001252Hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0001252Hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0001252Hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0001252Hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0001252Hypotonia0DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0001252Hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0001252Hypotonia0DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0001252Hypotonia0DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0001252Hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0001252Hypotonia0DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0001252Hypotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0001252Hypotonia0DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0001252Hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0001252Hypotonia0DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0001252Hypotonia0DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0001252Hypotonia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0001252Hypotonia0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0001252Hypotonia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0001252Hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0001252Hypotonia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0001252Hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0001252Hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0001252Hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0001252Hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0001252Hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0001252Hypotonia0EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0001252Hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0001252Hypotonia0EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0001252Hypotonia0ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0001252Hypotonia0ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0001252Hypotonia0ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0001252Hypotonia0ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0001252Hypotonia0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0001252Hypotonia0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0001252Hypotonia0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0001252Hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0001252Hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0001252Hypotonia0FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0001252Hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0001252Hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0001252Hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0001252Hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0001252Hypotonia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0001252Hypotonia0FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0001252Hypotonia0FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0001252Hypotonia0FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0001252Hypotonia0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0001252Hypotonia0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0001252Hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0001252Hypotonia0GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0001252Hypotonia0GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0001252Hypotonia0GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0001252Hypotonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0001252Hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0001252Hypotonia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0001252Hypotonia0GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0001252Hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0001252Hypotonia0GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0001252Hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0001252Hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0001252Hypotonia0GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0001252Hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0001252Hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0001252Hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0001252Hypotonia0GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0001252Hypotonia0GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0001252Hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0001252Hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0001252Hypotonia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0001252Hypotonia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0001252Hypotonia0GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0001252Hypotonia0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0001252Hypotonia0HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0001252Hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0001252Hypotonia0HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0001252Hypotonia0HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0001252Hypotonia0HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0001252Hypotonia0HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0001252Hypotonia0HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0001252Hypotonia0HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0001252Hypotonia0HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0001252Hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0001252Hypotonia0HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0001252Hypotonia0HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0001252Hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0001252Hypotonia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0001252Hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0001252Hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0001252Hypotonia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0001252Hypotonia0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0001252Hypotonia0IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0001252Hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0001252Hypotonia0IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0001252Hypotonia0IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0001252Hypotonia0INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0001252Hypotonia0IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0001252Hypotonia0IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0001252Hypotonia0ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0001252Hypotonia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0001252Hypotonia0ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0001252Hypotonia0ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0001252Hypotonia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0001252Hypotonia0IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0001252Hypotonia0JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0001252Hypotonia0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0001252Hypotonia0KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0001252Hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0001252Hypotonia0KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0001252Hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0001252Hypotonia0KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0001252Hypotonia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0001252Hypotonia0KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0001252Hypotonia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0001252Hypotonia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0001252Hypotonia0KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0001252Hypotonia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0001252Hypotonia0KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0001252Hypotonia0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0001252Hypotonia0KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0001252Hypotonia0L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0001252Hypotonia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0001252Hypotonia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0001252Hypotonia0LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0001252Hypotonia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0001252Hypotonia0LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0001252Hypotonia0LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0001252Hypotonia0LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0001252Hypotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0001252Hypotonia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0001252Hypotonia0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0001252Hypotonia0LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0001252Hypotonia0LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0001252Hypotonia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0001252Hypotonia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0001252Hypotonia0LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0001252Hypotonia0LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0001252Hypotonia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0001252Hypotonia0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0001252Hypotonia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0001252Hypotonia0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0001252Hypotonia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0001252Hypotonia0MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0001252Hypotonia0MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0001252Hypotonia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0001252Hypotonia0MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0001252Hypotonia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0001252Hypotonia0MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0001252Hypotonia0MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0001252Hypotonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0001252Hypotonia0MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0001252Hypotonia0MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0001252Hypotonia0MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0001252Hypotonia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0001252Hypotonia0MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0001252Hypotonia0MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0001252Hypotonia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0001252Hypotonia0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0001252Hypotonia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0001252Hypotonia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0001252Hypotonia0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0001252Hypotonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0001252Hypotonia0MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0001252Hypotonia0MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0001252Hypotonia0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0001252Hypotonia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0001252Hypotonia0MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0001252Hypotonia0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0001252Hypotonia0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0001252Hypotonia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0001252Hypotonia0MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0001252Hypotonia0MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0001252Hypotonia0MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0001252Hypotonia0MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0001252Hypotonia0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0001252Hypotonia0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0001252Hypotonia0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0001252Hypotonia0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0001252Hypotonia0MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0001252Hypotonia0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0001252Hypotonia0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0001252Hypotonia0MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0001252Hypotonia0MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0001252Hypotonia0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0001252Hypotonia0MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0001252Hypotonia0MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0001252Hypotonia0MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0001252Hypotonia0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0001252Hypotonia0NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0001252Hypotonia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0001252Hypotonia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0001252Hypotonia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0001252Hypotonia0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0001252Hypotonia0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0001252Hypotonia0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0001252Hypotonia0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0001252Hypotonia0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0001252Hypotonia0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0001252Hypotonia0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0001252Hypotonia0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0001252Hypotonia0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0001252Hypotonia0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0001252Hypotonia0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0001252Hypotonia0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0001252Hypotonia0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0001252Hypotonia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0001252Hypotonia0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0001252Hypotonia0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0001252Hypotonia0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0001252Hypotonia0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0001252Hypotonia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0001252Hypotonia0NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0001252Hypotonia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0001252Hypotonia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0001252Hypotonia0NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0001252Hypotonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0001252Hypotonia0NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0001252Hypotonia0NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0001252Hypotonia0NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0001252Hypotonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0001252Hypotonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0001252Hypotonia0NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0001252Hypotonia0NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0001252Hypotonia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0001252Hypotonia0NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0001252Hypotonia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0001252Hypotonia0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0001252Hypotonia0OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0001252Hypotonia0OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0001252Hypotonia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0001252Hypotonia0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0001252Hypotonia0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0001252Hypotonia0PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0001252Hypotonia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0001252Hypotonia0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0001252Hypotonia0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0001252Hypotonia0PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0001252Hypotonia0PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0001252Hypotonia0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0001252Hypotonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0001252Hypotonia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0001252Hypotonia0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0001252Hypotonia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0001252Hypotonia0PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0001252Hypotonia0PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0001252Hypotonia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0001252Hypotonia0PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0001252Hypotonia0PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0001252Hypotonia0PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0001252Hypotonia0PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0001252Hypotonia0PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0001252Hypotonia0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0001252Hypotonia0PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0001252Hypotonia0PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0001252Hypotonia0PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0001252Hypotonia0PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0001252Hypotonia0PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0001252Hypotonia0PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0001252Hypotonia0PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0001252Hypotonia0PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0001252Hypotonia0PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0001252Hypotonia0PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0001252Hypotonia0PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0001252Hypotonia0PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0001252Hypotonia0PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0001252Hypotonia0PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0001252Hypotonia0PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0001252Hypotonia0PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0001252Hypotonia0PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0001252Hypotonia0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0001252Hypotonia0PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0001252Hypotonia0PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0001252Hypotonia0PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0001252Hypotonia0PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0001252Hypotonia0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0001252Hypotonia0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0001252Hypotonia0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0001252Hypotonia0PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0001252Hypotonia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0001252Hypotonia0PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0001252Hypotonia0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0001252Hypotonia0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0001252Hypotonia0PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0001252Hypotonia0PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0001252Hypotonia0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0001252Hypotonia0PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0001252Hypotonia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0001252Hypotonia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0001252Hypotonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0001252Hypotonia0PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0001252Hypotonia0PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0001252Hypotonia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0001252Hypotonia0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0001252Hypotonia0PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0001252Hypotonia0PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0001252Hypotonia0PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0001252Hypotonia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0001252Hypotonia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0001252Hypotonia0POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0001252Hypotonia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0001252Hypotonia0POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0001252Hypotonia0POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0001252Hypotonia0POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0001252Hypotonia0POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0001252Hypotonia0POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0001252Hypotonia0POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0001252Hypotonia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0001252Hypotonia0POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0001252Hypotonia0POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0001252Hypotonia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0001252Hypotonia0POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0001252Hypotonia0POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0001252Hypotonia0PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0001252Hypotonia0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0001252Hypotonia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0001252Hypotonia0PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0001252Hypotonia0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0001252Hypotonia0PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0001252Hypotonia0PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0001252Hypotonia0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0001252Hypotonia0PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0001252Hypotonia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0001252Hypotonia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0001252Hypotonia0PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0001252Hypotonia0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0001252Hypotonia0PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0001252Hypotonia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0001252Hypotonia0PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0001252Hypotonia0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0001252Hypotonia0PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0001252Hypotonia0PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0001252Hypotonia0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0001252Hypotonia0PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0001252Hypotonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0001252Hypotonia0RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0001252Hypotonia0RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0001252Hypotonia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0001252Hypotonia0RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0001252Hypotonia0RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0001252Hypotonia0RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0001252Hypotonia0RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0001252Hypotonia0RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0001252Hypotonia0RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0001252Hypotonia0RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0001252Hypotonia0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0001252Hypotonia0RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0001252Hypotonia0RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0001252Hypotonia0RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0001252Hypotonia0RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0001252Hypotonia0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0001252Hypotonia0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0001252Hypotonia0REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0001252Hypotonia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0001252Hypotonia0RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0001252Hypotonia0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0001252Hypotonia0RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0001252Hypotonia0RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0001252Hypotonia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0001252Hypotonia0RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0001252Hypotonia0RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0001252Hypotonia0RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0001252Hypotonia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0001252Hypotonia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0001252Hypotonia0RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0001252Hypotonia0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0001252Hypotonia0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0001252Hypotonia0RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0001252Hypotonia0RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0001252Hypotonia0RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0001252Hypotonia0RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0001252Hypotonia0RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0001252Hypotonia0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0001252Hypotonia0SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0001252Hypotonia0SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0001252Hypotonia0SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0001252Hypotonia0SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0001252Hypotonia0SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0001252Hypotonia0SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0001252Hypotonia0SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0001252Hypotonia0SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0001252Hypotonia0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0001252Hypotonia0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0001252Hypotonia0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0001252Hypotonia0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0001252Hypotonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0001252Hypotonia0SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0001252Hypotonia0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0001252Hypotonia0SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0001252Hypotonia0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0001252Hypotonia0SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0001252Hypotonia0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0001252Hypotonia0SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0001252Hypotonia0SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0001252Hypotonia0SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0001252Hypotonia0SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0001252Hypotonia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0001252Hypotonia0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0001252Hypotonia0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0001252Hypotonia0SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0001252Hypotonia0SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0001252Hypotonia0SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0001252Hypotonia0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0001252Hypotonia0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0001252Hypotonia0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0001252Hypotonia0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0001252Hypotonia0SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0001252Hypotonia0SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0001252Hypotonia0SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0001252Hypotonia0SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0001252Hypotonia0SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0001252Hypotonia0SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0001252Hypotonia0SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0001252Hypotonia0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0001252Hypotonia0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0001252Hypotonia0SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0001252Hypotonia0SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0001252Hypotonia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0001252Hypotonia0SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0001252Hypotonia0SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0001252Hypotonia0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0001252Hypotonia0SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0001252Hypotonia0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0001252Hypotonia0SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0001252Hypotonia0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0001252Hypotonia0SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0001252Hypotonia0SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0001252Hypotonia0SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0001252Hypotonia0SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0001252Hypotonia0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0001252Hypotonia0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0001252Hypotonia0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0001252Hypotonia0SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0001252Hypotonia0SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0001252Hypotonia0SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0001252Hypotonia0SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0001252Hypotonia0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0001252Hypotonia0SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0001252Hypotonia0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0001252Hypotonia0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0001252Hypotonia0SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0001252Hypotonia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0001252Hypotonia0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0001252Hypotonia0STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0001252Hypotonia0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0001252Hypotonia0STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0001252Hypotonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0001252Hypotonia0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0001252Hypotonia0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0001252Hypotonia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0001252Hypotonia0TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0001252Hypotonia0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0001252Hypotonia0TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0001252Hypotonia0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0001252Hypotonia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0001252Hypotonia0TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0001252Hypotonia0TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0001252Hypotonia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0001252Hypotonia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0001252Hypotonia0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0001252Hypotonia0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0001252Hypotonia0TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0001252Hypotonia0TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0001252Hypotonia0THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0001252Hypotonia0THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0001252Hypotonia0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0001252Hypotonia0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0001252Hypotonia0TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0001252Hypotonia0TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0001252Hypotonia0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0001252Hypotonia0TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0001252Hypotonia0TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0001252Hypotonia0TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0001252Hypotonia0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0001252Hypotonia0TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0001252Hypotonia0TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0001252Hypotonia0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0001252Hypotonia0TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0001252Hypotonia0TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0001252Hypotonia0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0001252Hypotonia0TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0001252Hypotonia0TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0001252Hypotonia0TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0001252Hypotonia0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0001252Hypotonia0TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0001252Hypotonia0TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0001252Hypotonia0TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0001252Hypotonia0TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0001252Hypotonia0TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0001252Hypotonia0TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0001252Hypotonia0TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0001252Hypotonia0TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0001252Hypotonia0TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0001252Hypotonia0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0001252Hypotonia0UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0001252Hypotonia0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0001252Hypotonia0UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0001252Hypotonia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0001252Hypotonia0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0001252Hypotonia0UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0001252Hypotonia0UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0001252Hypotonia0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0001252Hypotonia0VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0001252Hypotonia0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0001252Hypotonia0VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0001252Hypotonia0VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0001252Hypotonia0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0001252Hypotonia0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0001252Hypotonia0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0001252Hypotonia0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0001252Hypotonia0WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0001252Hypotonia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0001252Hypotonia0WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0001252Hypotonia0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0001252Hypotonia0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0001252Hypotonia0YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0001252Hypotonia0ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0001252Hypotonia0ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0001252Hypotonia0ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0000297Facial hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0012389Appendicular hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0031139Frog-leg posture1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0001290Generalized hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0008947Infantile muscular hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0008936Muscular hypotonia of the trunk1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0001319Neonatal hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0030190Oral motor hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0006829Severe muscular hypotonia1A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0000297Facial hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0012389Appendicular hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0031139Frog-leg posture1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0001290Generalized hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0008947Infantile muscular hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0008936Muscular hypotonia of the trunk1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0001319Neonatal hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0030190Oral motor hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0006829Severe muscular hypotonia1AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0000297Facial hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0012389Appendicular hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0031139Frog-leg posture1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0001290Generalized hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0008947Infantile muscular hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0001319Neonatal hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0030190Oral motor hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0006829Severe muscular hypotonia1ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0000297Facial hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0012389Appendicular hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0031139Frog-leg posture1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0001290Generalized hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0008947Infantile muscular hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0001319Neonatal hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0030190Oral motor hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0006829Severe muscular hypotonia1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0000297Facial hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0012389Appendicular hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0031139Frog-leg posture1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0001290Generalized hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0008947Infantile muscular hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0001319Neonatal hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0030190Oral motor hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0006829Severe muscular hypotonia1ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0000297Facial hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0012389Appendicular hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0031139Frog-leg posture1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0001290Generalized hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0008947Infantile muscular hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0001319Neonatal hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0030190Oral motor hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0006829Severe muscular hypotonia1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0000297Facial hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0012389Appendicular hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0031139Frog-leg posture1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0001290Generalized hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0008947Infantile muscular hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0001319Neonatal hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0030190Oral motor hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0006829Severe muscular hypotonia1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0000297Facial hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0012389Appendicular hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0031139Frog-leg posture1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0001290Generalized hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0008947Infantile muscular hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0001319Neonatal hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0030190Oral motor hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0006829Severe muscular hypotonia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0000297Facial hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0012389Appendicular hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0031139Frog-leg posture1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0001290Generalized hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0008947Infantile muscular hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0001319Neonatal hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0030190Oral motor hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0006829Severe muscular hypotonia1ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0000297Facial hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0012389Appendicular hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0031139Frog-leg posture1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0001290Generalized hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0008947Infantile muscular hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0001319Neonatal hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0030190Oral motor hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0006829Severe muscular hypotonia1ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0000297Facial hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0012389Appendicular hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0031139Frog-leg posture1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0001290Generalized hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0008947Infantile muscular hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0001319Neonatal hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0030190Oral motor hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0006829Severe muscular hypotonia1ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0000297Facial hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0012389Appendicular hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0031139Frog-leg posture1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0001290Generalized hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0008947Infantile muscular hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0001319Neonatal hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0030190Oral motor hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0006829Severe muscular hypotonia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0000297Facial hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0012389Appendicular hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0031139Frog-leg posture1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0001290Generalized hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0008947Infantile muscular hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0001319Neonatal hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0030190Oral motor hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0006829Severe muscular hypotonia1ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0000297Facial hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0012389Appendicular hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0031139Frog-leg posture1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0001290Generalized hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0008947Infantile muscular hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0008936Muscular hypotonia of the trunk1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0001319Neonatal hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0030190Oral motor hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0006829Severe muscular hypotonia1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0000297Facial hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0012389Appendicular hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0031139Frog-leg posture1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0001290Generalized hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0008947Infantile muscular hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0008936Muscular hypotonia of the trunk1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0001319Neonatal hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0030190Oral motor hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0006829Severe muscular hypotonia1ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0000297Facial hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0012389Appendicular hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0031139Frog-leg posture1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0001290Generalized hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0008947Infantile muscular hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0008936Muscular hypotonia of the trunk1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0001319Neonatal hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0030190Oral motor hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0006829Severe muscular hypotonia1ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0000297Facial hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0012389Appendicular hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0031139Frog-leg posture1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0001290Generalized hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0008947Infantile muscular hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0008936Muscular hypotonia of the trunk1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0001319Neonatal hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0030190Oral motor hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0006829Severe muscular hypotonia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0000297Facial hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0012389Appendicular hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0031139Frog-leg posture1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0001290Generalized hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0008947Infantile muscular hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0008936Muscular hypotonia of the trunk1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0001319Neonatal hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0030190Oral motor hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0006829Severe muscular hypotonia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0000297Facial hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0012389Appendicular hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0031139Frog-leg posture1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0001290Generalized hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0008947Infantile muscular hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0008936Muscular hypotonia of the trunk1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0001319Neonatal hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0030190Oral motor hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0006829Severe muscular hypotonia1AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0000297Facial hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0012389Appendicular hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0031139Frog-leg posture1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0001290Generalized hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0008947Infantile muscular hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0008936Muscular hypotonia of the trunk1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0001319Neonatal hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0030190Oral motor hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0006829Severe muscular hypotonia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0000297Facial hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0012389Appendicular hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0031139Frog-leg posture1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0001290Generalized hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0008947Infantile muscular hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0008936Muscular hypotonia of the trunk1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0001319Neonatal hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0030190Oral motor hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0006829Severe muscular hypotonia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0000297Facial hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0012389Appendicular hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0031139Frog-leg posture1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0001290Generalized hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0008947Infantile muscular hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0008936Muscular hypotonia of the trunk1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0001319Neonatal hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0030190Oral motor hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0006829Severe muscular hypotonia1AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0000297Facial hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0012389Appendicular hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0031139Frog-leg posture1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0001290Generalized hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0008947Infantile muscular hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0008936Muscular hypotonia of the trunk1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0001319Neonatal hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0030190Oral motor hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0006829Severe muscular hypotonia1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0000297Facial hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0012389Appendicular hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0031139Frog-leg posture1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0001290Generalized hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0001319Neonatal hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0030190Oral motor hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0006829Severe muscular hypotonia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0000297Facial hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0012389Appendicular hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0031139Frog-leg posture1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0001290Generalized hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0001319Neonatal hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0030190Oral motor hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0006829Severe muscular hypotonia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0000297Facial hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0012389Appendicular hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0031139Frog-leg posture1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0001290Generalized hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0001319Neonatal hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0030190Oral motor hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0006829Severe muscular hypotonia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0000297Facial hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0012389Appendicular hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0031139Frog-leg posture1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0001290Generalized hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0001319Neonatal hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0030190Oral motor hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0006829Severe muscular hypotonia1ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0000297Facial hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0012389Appendicular hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0031139Frog-leg posture1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0001290Generalized hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0001319Neonatal hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0030190Oral motor hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0006829Severe muscular hypotonia1ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0000297Facial hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0012389Appendicular hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0031139Frog-leg posture1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0001290Generalized hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0008947Infantile muscular hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0001319Neonatal hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0030190Oral motor hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0006829Severe muscular hypotonia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0000297Facial hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0012389Appendicular hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0031139Frog-leg posture1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0001290Generalized hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0008947Infantile muscular hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0001319Neonatal hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0030190Oral motor hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0006829Severe muscular hypotonia1ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0000297Facial hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0012389Appendicular hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0031139Frog-leg posture1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0001290Generalized hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0008947Infantile muscular hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0001319Neonatal hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0030190Oral motor hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0006829Severe muscular hypotonia1ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0000297Facial hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0012389Appendicular hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0031139Frog-leg posture1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0001290Generalized hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0008947Infantile muscular hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0001319Neonatal hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0030190Oral motor hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0006829Severe muscular hypotonia1ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0000297Facial hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0012389Appendicular hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0031139Frog-leg posture1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0001290Generalized hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0008947Infantile muscular hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0001319Neonatal hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0030190Oral motor hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0006829Severe muscular hypotonia1ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0000297Facial hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0012389Appendicular hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0031139Frog-leg posture1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0001290Generalized hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0008947Infantile muscular hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0001319Neonatal hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0030190Oral motor hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0006829Severe muscular hypotonia1ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0000297Facial hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0012389Appendicular hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0031139Frog-leg posture1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0001290Generalized hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0008947Infantile muscular hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0008936Muscular hypotonia of the trunk1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0001319Neonatal hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0030190Oral motor hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0006829Severe muscular hypotonia1AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0000297Facial hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0012389Appendicular hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0031139Frog-leg posture1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0001290Generalized hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0008947Infantile muscular hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0008936Muscular hypotonia of the trunk1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0001319Neonatal hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0030190Oral motor hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0006829Severe muscular hypotonia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0000297Facial hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0012389Appendicular hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0031139Frog-leg posture1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0001290Generalized hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0008947Infantile muscular hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0008936Muscular hypotonia of the trunk1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0001319Neonatal hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0030190Oral motor hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0006829Severe muscular hypotonia1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0000297Facial hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0012389Appendicular hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0031139Frog-leg posture1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0001290Generalized hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0008947Infantile muscular hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0008936Muscular hypotonia of the trunk1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0001319Neonatal hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0030190Oral motor hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0006829Severe muscular hypotonia1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0000297Facial hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0012389Appendicular hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0031139Frog-leg posture1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0001290Generalized hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0008947Infantile muscular hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0008936Muscular hypotonia of the trunk1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0001319Neonatal hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0030190Oral motor hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0006829Severe muscular hypotonia1APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0000297Facial hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0012389Appendicular hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0031139Frog-leg posture1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0001290Generalized hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0008947Infantile muscular hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0008936Muscular hypotonia of the trunk1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0001319Neonatal hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0030190Oral motor hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0006829Severe muscular hypotonia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0000297Facial hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0012389Appendicular hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0031139Frog-leg posture1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0001290Generalized hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0008947Infantile muscular hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0008936Muscular hypotonia of the trunk1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0001319Neonatal hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0030190Oral motor hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0006829Severe muscular hypotonia1AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0000297Facial hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0012389Appendicular hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0031139Frog-leg posture1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0001290Generalized hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0008947Infantile muscular hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0001319Neonatal hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0030190Oral motor hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0006829Severe muscular hypotonia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0000297Facial hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0012389Appendicular hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0031139Frog-leg posture1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0001290Generalized hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0008947Infantile muscular hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0001319Neonatal hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0030190Oral motor hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0006829Severe muscular hypotonia1ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0000297Facial hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0012389Appendicular hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0031139Frog-leg posture1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0001290Generalized hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0008947Infantile muscular hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0001319Neonatal hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0030190Oral motor hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0006829Severe muscular hypotonia1ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0000297Facial hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0012389Appendicular hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0031139Frog-leg posture1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0001290Generalized hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0008947Infantile muscular hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0001319Neonatal hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0030190Oral motor hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0006829Severe muscular hypotonia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0000297Facial hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0012389Appendicular hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0031139Frog-leg posture1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0001290Generalized hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0008947Infantile muscular hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0001319Neonatal hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0030190Oral motor hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0006829Severe muscular hypotonia1ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0000297Facial hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0012389Appendicular hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0031139Frog-leg posture1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0001290Generalized hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0008947Infantile muscular hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0001319Neonatal hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0030190Oral motor hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0006829Severe muscular hypotonia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0000297Facial hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0012389Appendicular hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0031139Frog-leg posture1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0001290Generalized hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0008947Infantile muscular hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0001319Neonatal hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0030190Oral motor hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0006829Severe muscular hypotonia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0000297Facial hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0012389Appendicular hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0031139Frog-leg posture1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0001290Generalized hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0008947Infantile muscular hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0001319Neonatal hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0030190Oral motor hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0006829Severe muscular hypotonia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0000297Facial hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0012389Appendicular hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0031139Frog-leg posture1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0001290Generalized hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0008947Infantile muscular hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0001319Neonatal hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0030190Oral motor hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0006829Severe muscular hypotonia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0000297Facial hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0012389Appendicular hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0031139Frog-leg posture1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0001290Generalized hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0008947Infantile muscular hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0001319Neonatal hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0030190Oral motor hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0006829Severe muscular hypotonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0000297Facial hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0012389Appendicular hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0031139Frog-leg posture1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0001290Generalized hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0008947Infantile muscular hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0001319Neonatal hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0030190Oral motor hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0006829Severe muscular hypotonia1ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0000297Facial hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0012389Appendicular hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0031139Frog-leg posture1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0001290Generalized hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0008947Infantile muscular hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0001319Neonatal hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0030190Oral motor hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0006829Severe muscular hypotonia1ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0000297Facial hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0012389Appendicular hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0031139Frog-leg posture1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0001290Generalized hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0008947Infantile muscular hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0001319Neonatal hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0030190Oral motor hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0006829Severe muscular hypotonia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0000297Facial hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0012389Appendicular hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0031139Frog-leg posture1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0001290Generalized hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0008947Infantile muscular hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0008936Muscular hypotonia of the trunk1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0001319Neonatal hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0030190Oral motor hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0006829Severe muscular hypotonia1ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0000297Facial hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0012389Appendicular hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0031139Frog-leg posture1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0001290Generalized hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0008947Infantile muscular hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0008936Muscular hypotonia of the trunk1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0001319Neonatal hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0030190Oral motor hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0006829Severe muscular hypotonia1ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0000297Facial hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0012389Appendicular hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0031139Frog-leg posture1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0001290Generalized hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0008947Infantile muscular hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0008936Muscular hypotonia of the trunk1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0001319Neonatal hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0030190Oral motor hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0006829Severe muscular hypotonia1ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0000297Facial hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0012389Appendicular hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0031139Frog-leg posture1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0001290Generalized hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0008947Infantile muscular hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0008936Muscular hypotonia of the trunk1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0001319Neonatal hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0030190Oral motor hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0006829Severe muscular hypotonia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0000297Facial hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0012389Appendicular hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0031139Frog-leg posture1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0001290Generalized hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0008947Infantile muscular hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0001319Neonatal hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0030190Oral motor hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0006829Severe muscular hypotonia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0000297Facial hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0012389Appendicular hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0031139Frog-leg posture1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0001290Generalized hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0008947Infantile muscular hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0001319Neonatal hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0030190Oral motor hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0006829Severe muscular hypotonia1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0000297Facial hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0012389Appendicular hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0031139Frog-leg posture1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0001290Generalized hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0008947Infantile muscular hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0001319Neonatal hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0030190Oral motor hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0006829Severe muscular hypotonia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0000297Facial hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0012389Appendicular hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0031139Frog-leg posture1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0001290Generalized hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0008947Infantile muscular hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0001319Neonatal hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0030190Oral motor hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0006829Severe muscular hypotonia1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0000297Facial hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0012389Appendicular hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0031139Frog-leg posture1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0001290Generalized hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0008947Infantile muscular hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0001319Neonatal hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0030190Oral motor hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0006829Severe muscular hypotonia1ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0000297Facial hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0012389Appendicular hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0031139Frog-leg posture1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0001290Generalized hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0008947Infantile muscular hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0001319Neonatal hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0030190Oral motor hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0006829Severe muscular hypotonia1ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0000297Facial hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0012389Appendicular hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0031139Frog-leg posture1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0001290Generalized hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0008947Infantile muscular hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0001319Neonatal hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0030190Oral motor hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0006829Severe muscular hypotonia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0000297Facial hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0012389Appendicular hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0031139Frog-leg posture1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0001290Generalized hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0008947Infantile muscular hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0001319Neonatal hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0030190Oral motor hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0006829Severe muscular hypotonia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0000297Facial hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0012389Appendicular hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0031139Frog-leg posture1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0001290Generalized hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0008947Infantile muscular hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0001319Neonatal hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0030190Oral motor hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0006829Severe muscular hypotonia1ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0000297Facial hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0012389Appendicular hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0031139Frog-leg posture1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0001290Generalized hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0008947Infantile muscular hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0001319Neonatal hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0030190Oral motor hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0006829Severe muscular hypotonia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0000297Facial hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0012389Appendicular hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0031139Frog-leg posture1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0001290Generalized hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0008947Infantile muscular hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0008936Muscular hypotonia of the trunk1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0001319Neonatal hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0030190Oral motor hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0006829Severe muscular hypotonia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0000297Facial hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0012389Appendicular hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0031139Frog-leg posture1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0001290Generalized hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0008947Infantile muscular hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0008936Muscular hypotonia of the trunk1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0001319Neonatal hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0030190Oral motor hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0006829Severe muscular hypotonia1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0000297Facial hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0012389Appendicular hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0031139Frog-leg posture1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0001290Generalized hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0008947Infantile muscular hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0008936Muscular hypotonia of the trunk1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0001319Neonatal hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0030190Oral motor hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0006829Severe muscular hypotonia1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0000297Facial hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0012389Appendicular hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0031139Frog-leg posture1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0001290Generalized hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0008947Infantile muscular hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0008936Muscular hypotonia of the trunk1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0001319Neonatal hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0030190Oral motor hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0006829Severe muscular hypotonia1B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0000297Facial hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0012389Appendicular hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0031139Frog-leg posture1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0001290Generalized hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0008947Infantile muscular hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0008936Muscular hypotonia of the trunk1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0001319Neonatal hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0030190Oral motor hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0006829Severe muscular hypotonia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0000297Facial hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0012389Appendicular hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0031139Frog-leg posture1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0001290Generalized hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0008947Infantile muscular hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0008936Muscular hypotonia of the trunk1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0001319Neonatal hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0030190Oral motor hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0006829Severe muscular hypotonia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0000297Facial hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0012389Appendicular hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0031139Frog-leg posture1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0001290Generalized hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0008947Infantile muscular hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0008936Muscular hypotonia of the trunk1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0001319Neonatal hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0030190Oral motor hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0006829Severe muscular hypotonia1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0000297Facial hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0012389Appendicular hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0031139Frog-leg posture1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0001290Generalized hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0008947Infantile muscular hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0008936Muscular hypotonia of the trunk1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0001319Neonatal hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0030190Oral motor hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0006829Severe muscular hypotonia1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0000297Facial hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0012389Appendicular hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0031139Frog-leg posture1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0001290Generalized hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0008947Infantile muscular hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0008936Muscular hypotonia of the trunk1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0001319Neonatal hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0030190Oral motor hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0006829Severe muscular hypotonia1B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0000297Facial hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0012389Appendicular hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0031139Frog-leg posture1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0001290Generalized hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0008947Infantile muscular hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0008936Muscular hypotonia of the trunk1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0001319Neonatal hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0030190Oral motor hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0006829Severe muscular hypotonia1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0000297Facial hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0012389Appendicular hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0031139Frog-leg posture1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0001290Generalized hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0008947Infantile muscular hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0008936Muscular hypotonia of the trunk1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0001319Neonatal hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0030190Oral motor hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0006829Severe muscular hypotonia1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0000297Facial hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0012389Appendicular hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0031139Frog-leg posture1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0001290Generalized hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0008947Infantile muscular hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0008936Muscular hypotonia of the trunk1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0001319Neonatal hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0030190Oral motor hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0006829Severe muscular hypotonia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0000297Facial hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0012389Appendicular hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0031139Frog-leg posture1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0001290Generalized hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0008947Infantile muscular hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0008936Muscular hypotonia of the trunk1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0001319Neonatal hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0030190Oral motor hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0006829Severe muscular hypotonia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0000297Facial hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0012389Appendicular hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0031139Frog-leg posture1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0001290Generalized hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0008947Infantile muscular hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0008936Muscular hypotonia of the trunk1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0001319Neonatal hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0030190Oral motor hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0006829Severe muscular hypotonia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0000297Facial hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0012389Appendicular hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0031139Frog-leg posture1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0001290Generalized hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0008947Infantile muscular hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0008936Muscular hypotonia of the trunk1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0001319Neonatal hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0030190Oral motor hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0006829Severe muscular hypotonia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0000297Facial hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0012389Appendicular hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0031139Frog-leg posture1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0001290Generalized hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0008947Infantile muscular hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0008936Muscular hypotonia of the trunk1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0001319Neonatal hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0030190Oral motor hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0006829Severe muscular hypotonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0000297Facial hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0012389Appendicular hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0031139Frog-leg posture1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0001290Generalized hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0008947Infantile muscular hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0008936Muscular hypotonia of the trunk1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0001319Neonatal hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0030190Oral motor hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0006829Severe muscular hypotonia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0000297Facial hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0012389Appendicular hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0031139Frog-leg posture1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0001290Generalized hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0008947Infantile muscular hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0008936Muscular hypotonia of the trunk1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0001319Neonatal hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0030190Oral motor hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0006829Severe muscular hypotonia1BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0000297Facial hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0012389Appendicular hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0031139Frog-leg posture1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0001290Generalized hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0008947Infantile muscular hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0008936Muscular hypotonia of the trunk1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0001319Neonatal hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0030190Oral motor hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0006829Severe muscular hypotonia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0000297Facial hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0012389Appendicular hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0031139Frog-leg posture1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0001290Generalized hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0008947Infantile muscular hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0008936Muscular hypotonia of the trunk1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0001319Neonatal hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0030190Oral motor hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0006829Severe muscular hypotonia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0000297Facial hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0012389Appendicular hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0031139Frog-leg posture1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0001290Generalized hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0008947Infantile muscular hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0008936Muscular hypotonia of the trunk1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0001319Neonatal hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0030190Oral motor hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0006829Severe muscular hypotonia1BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0000297Facial hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0012389Appendicular hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0031139Frog-leg posture1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0001290Generalized hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0008947Infantile muscular hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0008936Muscular hypotonia of the trunk1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0001319Neonatal hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0030190Oral motor hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0006829Severe muscular hypotonia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0000297Facial hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0012389Appendicular hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0031139Frog-leg posture1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0001290Generalized hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0008947Infantile muscular hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0008936Muscular hypotonia of the trunk1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0001319Neonatal hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0030190Oral motor hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0006829Severe muscular hypotonia1BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0000297Facial hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0012389Appendicular hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0031139Frog-leg posture1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0001290Generalized hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0008947Infantile muscular hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0008936Muscular hypotonia of the trunk1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0001319Neonatal hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0030190Oral motor hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0006829Severe muscular hypotonia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0000297Facial hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0012389Appendicular hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0031139Frog-leg posture1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0001290Generalized hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0008947Infantile muscular hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0008936Muscular hypotonia of the trunk1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0001319Neonatal hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0030190Oral motor hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0006829Severe muscular hypotonia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0000297Facial hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0012389Appendicular hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0031139Frog-leg posture1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0001290Generalized hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0008947Infantile muscular hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0008936Muscular hypotonia of the trunk1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0001319Neonatal hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0030190Oral motor hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0006829Severe muscular hypotonia1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0000297Facial hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0012389Appendicular hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0031139Frog-leg posture1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0001290Generalized hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0008947Infantile muscular hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0008936Muscular hypotonia of the trunk1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0001319Neonatal hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0030190Oral motor hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0006829Severe muscular hypotonia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0000297Facial hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0012389Appendicular hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0031139Frog-leg posture1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0001290Generalized hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0008947Infantile muscular hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0008936Muscular hypotonia of the trunk1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0001319Neonatal hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0030190Oral motor hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0006829Severe muscular hypotonia1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0000297Facial hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0012389Appendicular hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0031139Frog-leg posture1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0001290Generalized hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0008947Infantile muscular hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0008936Muscular hypotonia of the trunk1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0001319Neonatal hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0030190Oral motor hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0006829Severe muscular hypotonia1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0000297Facial hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0012389Appendicular hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0031139Frog-leg posture1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0001290Generalized hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0008947Infantile muscular hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0008936Muscular hypotonia of the trunk1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0001319Neonatal hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0030190Oral motor hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0006829Severe muscular hypotonia1CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0000297Facial hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0012389Appendicular hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0031139Frog-leg posture1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0001290Generalized hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0008947Infantile muscular hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0008936Muscular hypotonia of the trunk1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0001319Neonatal hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0030190Oral motor hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0006829Severe muscular hypotonia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0000297Facial hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0012389Appendicular hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0031139Frog-leg posture1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0001290Generalized hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0008947Infantile muscular hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0008936Muscular hypotonia of the trunk1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0001319Neonatal hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0030190Oral motor hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0006829Severe muscular hypotonia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0000297Facial hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0012389Appendicular hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0031139Frog-leg posture1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0001290Generalized hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0008947Infantile muscular hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0008936Muscular hypotonia of the trunk1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0001319Neonatal hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0030190Oral motor hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0006829Severe muscular hypotonia1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0000297Facial hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0012389Appendicular hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0031139Frog-leg posture1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0001290Generalized hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0008947Infantile muscular hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0008936Muscular hypotonia of the trunk1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0001319Neonatal hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0030190Oral motor hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0006829Severe muscular hypotonia1CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0000297Facial hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0012389Appendicular hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0031139Frog-leg posture1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0001290Generalized hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0008947Infantile muscular hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0008936Muscular hypotonia of the trunk1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0001319Neonatal hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0030190Oral motor hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0006829Severe muscular hypotonia1CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0000297Facial hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0012389Appendicular hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0031139Frog-leg posture1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0001290Generalized hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0008947Infantile muscular hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0008936Muscular hypotonia of the trunk1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0001319Neonatal hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0030190Oral motor hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0006829Severe muscular hypotonia1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0000297Facial hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0012389Appendicular hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0031139Frog-leg posture1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0001290Generalized hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0008947Infantile muscular hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0008936Muscular hypotonia of the trunk1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0001319Neonatal hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0030190Oral motor hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0006829Severe muscular hypotonia1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0000297Facial hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0012389Appendicular hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0031139Frog-leg posture1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0001290Generalized hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0008947Infantile muscular hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0001319Neonatal hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0030190Oral motor hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0006829Severe muscular hypotonia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0000297Facial hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0012389Appendicular hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0031139Frog-leg posture1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0001290Generalized hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0008947Infantile muscular hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0001319Neonatal hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0030190Oral motor hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0006829Severe muscular hypotonia1CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0000297Facial hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0012389Appendicular hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0031139Frog-leg posture1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0001290Generalized hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0008947Infantile muscular hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0001319Neonatal hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0030190Oral motor hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0006829Severe muscular hypotonia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0000297Facial hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0012389Appendicular hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0031139Frog-leg posture1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0001290Generalized hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0008947Infantile muscular hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0001319Neonatal hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0030190Oral motor hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0006829Severe muscular hypotonia1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0000297Facial hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0012389Appendicular hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0031139Frog-leg posture1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0001290Generalized hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0008947Infantile muscular hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0001319Neonatal hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0030190Oral motor hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0006829Severe muscular hypotonia1CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0000297Facial hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0012389Appendicular hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0031139Frog-leg posture1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0001290Generalized hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0008947Infantile muscular hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0001319Neonatal hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0030190Oral motor hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0006829Severe muscular hypotonia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0000297Facial hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0012389Appendicular hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0031139Frog-leg posture1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0001290Generalized hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0008947Infantile muscular hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0001319Neonatal hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0030190Oral motor hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0006829Severe muscular hypotonia1CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0000297Facial hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0012389Appendicular hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0031139Frog-leg posture1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0001290Generalized hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0008947Infantile muscular hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0001319Neonatal hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0030190Oral motor hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0006829Severe muscular hypotonia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0000297Facial hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0012389Appendicular hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0031139Frog-leg posture1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0001290Generalized hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0008947Infantile muscular hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0008936Muscular hypotonia of the trunk1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0001319Neonatal hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0030190Oral motor hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0006829Severe muscular hypotonia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0000297Facial hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0012389Appendicular hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0031139Frog-leg posture1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0001290Generalized hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0008947Infantile muscular hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0008936Muscular hypotonia of the trunk1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0001319Neonatal hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0030190Oral motor hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0006829Severe muscular hypotonia1CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0000297Facial hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0012389Appendicular hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0031139Frog-leg posture1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0001290Generalized hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0008947Infantile muscular hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0008936Muscular hypotonia of the trunk1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0001319Neonatal hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0030190Oral motor hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0006829Severe muscular hypotonia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0000297Facial hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0012389Appendicular hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0031139Frog-leg posture1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0001290Generalized hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0008947Infantile muscular hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0008936Muscular hypotonia of the trunk1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0001319Neonatal hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0030190Oral motor hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0006829Severe muscular hypotonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0000297Facial hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0012389Appendicular hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0031139Frog-leg posture1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0001290Generalized hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0008947Infantile muscular hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0008936Muscular hypotonia of the trunk1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0001319Neonatal hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0030190Oral motor hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0006829Severe muscular hypotonia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0000297Facial hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0012389Appendicular hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0031139Frog-leg posture1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0001290Generalized hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0008947Infantile muscular hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0008936Muscular hypotonia of the trunk1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0001319Neonatal hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0030190Oral motor hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0006829Severe muscular hypotonia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0000297Facial hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0012389Appendicular hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0031139Frog-leg posture1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0001290Generalized hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0008947Infantile muscular hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0008936Muscular hypotonia of the trunk1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0001319Neonatal hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0030190Oral motor hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0006829Severe muscular hypotonia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0000297Facial hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0012389Appendicular hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0031139Frog-leg posture1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0001290Generalized hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0008947Infantile muscular hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0008936Muscular hypotonia of the trunk1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0001319Neonatal hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0030190Oral motor hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0006829Severe muscular hypotonia1CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0000297Facial hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0012389Appendicular hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0031139Frog-leg posture1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0001290Generalized hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0008947Infantile muscular hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0008936Muscular hypotonia of the trunk1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0001319Neonatal hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0030190Oral motor hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0006829Severe muscular hypotonia1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0000297Facial hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0012389Appendicular hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0031139Frog-leg posture1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0001290Generalized hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0008947Infantile muscular hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0008936Muscular hypotonia of the trunk1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0001319Neonatal hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0030190Oral motor hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0006829Severe muscular hypotonia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0000297Facial hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0012389Appendicular hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0031139Frog-leg posture1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0001290Generalized hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0008947Infantile muscular hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0008936Muscular hypotonia of the trunk1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0001319Neonatal hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0030190Oral motor hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0006829Severe muscular hypotonia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0000297Facial hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0012389Appendicular hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0031139Frog-leg posture1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0001290Generalized hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0008947Infantile muscular hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0008936Muscular hypotonia of the trunk1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0001319Neonatal hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0030190Oral motor hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0006829Severe muscular hypotonia1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0000297Facial hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0012389Appendicular hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0031139Frog-leg posture1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0001290Generalized hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0008947Infantile muscular hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0008936Muscular hypotonia of the trunk1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0001319Neonatal hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0030190Oral motor hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0006829Severe muscular hypotonia1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0000297Facial hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0012389Appendicular hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0031139Frog-leg posture1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0001290Generalized hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0008947Infantile muscular hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0008936Muscular hypotonia of the trunk1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0001319Neonatal hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0030190Oral motor hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0006829Severe muscular hypotonia1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0000297Facial hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0012389Appendicular hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0031139Frog-leg posture1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0001290Generalized hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0008947Infantile muscular hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0001319Neonatal hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0030190Oral motor hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0006829Severe muscular hypotonia1COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0000297Facial hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0012389Appendicular hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0031139Frog-leg posture1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0001290Generalized hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0008947Infantile muscular hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0001319Neonatal hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0030190Oral motor hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0006829Severe muscular hypotonia1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0000297Facial hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0012389Appendicular hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0031139Frog-leg posture1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0001290Generalized hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0008947Infantile muscular hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0001319Neonatal hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0030190Oral motor hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0006829Severe muscular hypotonia1COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0000297Facial hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0012389Appendicular hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0031139Frog-leg posture1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0001290Generalized hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0008947Infantile muscular hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0001319Neonatal hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0030190Oral motor hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0006829Severe muscular hypotonia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0000297Facial hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0012389Appendicular hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0031139Frog-leg posture1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0001290Generalized hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0008947Infantile muscular hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0001319Neonatal hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0030190Oral motor hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0006829Severe muscular hypotonia1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0000297Facial hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0012389Appendicular hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0031139Frog-leg posture1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0001290Generalized hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0008947Infantile muscular hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0008936Muscular hypotonia of the trunk1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0001319Neonatal hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0030190Oral motor hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0006829Severe muscular hypotonia1COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0000297Facial hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0012389Appendicular hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0031139Frog-leg posture1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0001290Generalized hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0008947Infantile muscular hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0008936Muscular hypotonia of the trunk1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0001319Neonatal hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0030190Oral motor hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0006829Severe muscular hypotonia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0000297Facial hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0012389Appendicular hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0031139Frog-leg posture1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0001290Generalized hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0008947Infantile muscular hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0008936Muscular hypotonia of the trunk1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0001319Neonatal hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0030190Oral motor hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0006829Severe muscular hypotonia1COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0000297Facial hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0012389Appendicular hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0031139Frog-leg posture1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0001290Generalized hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0008947Infantile muscular hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0008936Muscular hypotonia of the trunk1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0001319Neonatal hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0030190Oral motor hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0006829Severe muscular hypotonia1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0000297Facial hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0012389Appendicular hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0031139Frog-leg posture1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0001290Generalized hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0008947Infantile muscular hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0001319Neonatal hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0030190Oral motor hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0006829Severe muscular hypotonia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0000297Facial hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0012389Appendicular hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0031139Frog-leg posture1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0001290Generalized hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0008947Infantile muscular hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0001319Neonatal hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0030190Oral motor hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0006829Severe muscular hypotonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0000297Facial hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0012389Appendicular hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0031139Frog-leg posture1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0001290Generalized hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0008947Infantile muscular hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0001319Neonatal hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0030190Oral motor hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0006829Severe muscular hypotonia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0000297Facial hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0012389Appendicular hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0031139Frog-leg posture1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0001290Generalized hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0008947Infantile muscular hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0001319Neonatal hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0030190Oral motor hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0006829Severe muscular hypotonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0000297Facial hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0012389Appendicular hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0031139Frog-leg posture1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0001290Generalized hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0008947Infantile muscular hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0001319Neonatal hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0030190Oral motor hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0006829Severe muscular hypotonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0000297Facial hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0012389Appendicular hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0031139Frog-leg posture1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0001290Generalized hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0008947Infantile muscular hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0001319Neonatal hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0030190Oral motor hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0006829Severe muscular hypotonia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0000297Facial hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0012389Appendicular hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0031139Frog-leg posture1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0001290Generalized hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0008947Infantile muscular hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0001319Neonatal hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0030190Oral motor hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0006829Severe muscular hypotonia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0000297Facial hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0012389Appendicular hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0031139Frog-leg posture1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0001290Generalized hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0008947Infantile muscular hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0008936Muscular hypotonia of the trunk1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0001319Neonatal hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0030190Oral motor hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0006829Severe muscular hypotonia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0000297Facial hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0012389Appendicular hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0031139Frog-leg posture1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0001290Generalized hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0008947Infantile muscular hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0008936Muscular hypotonia of the trunk1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0001319Neonatal hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0030190Oral motor hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0006829Severe muscular hypotonia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0000297Facial hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0012389Appendicular hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0031139Frog-leg posture1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0001290Generalized hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0008947Infantile muscular hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0008936Muscular hypotonia of the trunk1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0001319Neonatal hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0030190Oral motor hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0006829Severe muscular hypotonia1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0000297Facial hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0012389Appendicular hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0031139Frog-leg posture1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0001290Generalized hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0008947Infantile muscular hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0008936Muscular hypotonia of the trunk1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0001319Neonatal hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0030190Oral motor hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0006829Severe muscular hypotonia1CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0000297Facial hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0012389Appendicular hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0031139Frog-leg posture1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0001290Generalized hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0008947Infantile muscular hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0008936Muscular hypotonia of the trunk1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0001319Neonatal hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0030190Oral motor hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0006829Severe muscular hypotonia1CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0000297Facial hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0012389Appendicular hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0031139Frog-leg posture1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0001290Generalized hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0008947Infantile muscular hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0008936Muscular hypotonia of the trunk1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0001319Neonatal hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0030190Oral motor hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0006829Severe muscular hypotonia1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0000297Facial hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0012389Appendicular hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0031139Frog-leg posture1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0001290Generalized hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0008947Infantile muscular hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0008936Muscular hypotonia of the trunk1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0001319Neonatal hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0030190Oral motor hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0006829Severe muscular hypotonia1CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0000297Facial hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0012389Appendicular hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0031139Frog-leg posture1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0001290Generalized hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0008947Infantile muscular hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0008936Muscular hypotonia of the trunk1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0001319Neonatal hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0030190Oral motor hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0006829Severe muscular hypotonia1CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0000297Facial hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0012389Appendicular hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0031139Frog-leg posture1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0001290Generalized hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0008947Infantile muscular hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0008936Muscular hypotonia of the trunk1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0001319Neonatal hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0030190Oral motor hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0006829Severe muscular hypotonia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0000297Facial hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0012389Appendicular hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0031139Frog-leg posture1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0001290Generalized hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0008947Infantile muscular hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0008936Muscular hypotonia of the trunk1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0001319Neonatal hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0030190Oral motor hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0006829Severe muscular hypotonia1CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0000297Facial hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0012389Appendicular hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0031139Frog-leg posture1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0001290Generalized hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0008947Infantile muscular hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0008936Muscular hypotonia of the trunk1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0001319Neonatal hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0030190Oral motor hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0006829Severe muscular hypotonia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0000297Facial hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0012389Appendicular hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0031139Frog-leg posture1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0001290Generalized hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0008947Infantile muscular hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0008936Muscular hypotonia of the trunk1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0001319Neonatal hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0030190Oral motor hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0006829Severe muscular hypotonia1CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0000297Facial hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0012389Appendicular hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0031139Frog-leg posture1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0001290Generalized hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0008947Infantile muscular hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0008936Muscular hypotonia of the trunk1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0001319Neonatal hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0030190Oral motor hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0006829Severe muscular hypotonia1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0000297Facial hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0012389Appendicular hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0031139Frog-leg posture1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0001290Generalized hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0008947Infantile muscular hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0008936Muscular hypotonia of the trunk1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0001319Neonatal hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0030190Oral motor hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0006829Severe muscular hypotonia1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0000297Facial hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0012389Appendicular hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0031139Frog-leg posture1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0001290Generalized hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0008947Infantile muscular hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0008936Muscular hypotonia of the trunk1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0001319Neonatal hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0030190Oral motor hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0006829Severe muscular hypotonia1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0000297Facial hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0012389Appendicular hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0031139Frog-leg posture1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0001290Generalized hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0008947Infantile muscular hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0008936Muscular hypotonia of the trunk1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0001319Neonatal hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0030190Oral motor hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0006829Severe muscular hypotonia1DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0000297Facial hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0012389Appendicular hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0031139Frog-leg posture1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0001290Generalized hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0008947Infantile muscular hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0008936Muscular hypotonia of the trunk1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0001319Neonatal hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0030190Oral motor hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0006829Severe muscular hypotonia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0000297Facial hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0012389Appendicular hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0031139Frog-leg posture1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0001290Generalized hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0008947Infantile muscular hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0008936Muscular hypotonia of the trunk1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0001319Neonatal hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0030190Oral motor hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0006829Severe muscular hypotonia1DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0000297Facial hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0012389Appendicular hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0031139Frog-leg posture1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0001290Generalized hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0008947Infantile muscular hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0008936Muscular hypotonia of the trunk1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0001319Neonatal hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0030190Oral motor hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0006829Severe muscular hypotonia1DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0000297Facial hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0012389Appendicular hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0031139Frog-leg posture1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0001290Generalized hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0008947Infantile muscular hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0008936Muscular hypotonia of the trunk1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0001319Neonatal hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0030190Oral motor hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0006829Severe muscular hypotonia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0000297Facial hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0012389Appendicular hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0031139Frog-leg posture1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0001290Generalized hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0008947Infantile muscular hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0008936Muscular hypotonia of the trunk1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0001319Neonatal hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0030190Oral motor hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0006829Severe muscular hypotonia1DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0000297Facial hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0012389Appendicular hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0031139Frog-leg posture1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0001290Generalized hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0008947Infantile muscular hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0008936Muscular hypotonia of the trunk1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0001319Neonatal hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0030190Oral motor hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0006829Severe muscular hypotonia1DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0000297Facial hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0012389Appendicular hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0031139Frog-leg posture1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0001290Generalized hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0008947Infantile muscular hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0008936Muscular hypotonia of the trunk1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0001319Neonatal hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0030190Oral motor hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0006829Severe muscular hypotonia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0000297Facial hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0012389Appendicular hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0031139Frog-leg posture1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0001290Generalized hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0008947Infantile muscular hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0008936Muscular hypotonia of the trunk1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0001319Neonatal hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0030190Oral motor hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0006829Severe muscular hypotonia1DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0000297Facial hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0012389Appendicular hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0031139Frog-leg posture1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0001290Generalized hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0008947Infantile muscular hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0008936Muscular hypotonia of the trunk1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0001319Neonatal hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0030190Oral motor hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0006829Severe muscular hypotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0000297Facial hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0012389Appendicular hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0031139Frog-leg posture1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0001290Generalized hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0008947Infantile muscular hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0008936Muscular hypotonia of the trunk1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0001319Neonatal hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0030190Oral motor hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0006829Severe muscular hypotonia1DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0000297Facial hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0012389Appendicular hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0031139Frog-leg posture1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0001290Generalized hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0008947Infantile muscular hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0008936Muscular hypotonia of the trunk1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0001319Neonatal hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0030190Oral motor hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0006829Severe muscular hypotonia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0000297Facial hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0012389Appendicular hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0031139Frog-leg posture1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0001290Generalized hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0008947Infantile muscular hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0008936Muscular hypotonia of the trunk1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0001319Neonatal hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0030190Oral motor hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0006829Severe muscular hypotonia1DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0000297Facial hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0012389Appendicular hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0031139Frog-leg posture1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0001290Generalized hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0008947Infantile muscular hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0008936Muscular hypotonia of the trunk1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0001319Neonatal hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0030190Oral motor hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0006829Severe muscular hypotonia1DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0000297Facial hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0012389Appendicular hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0031139Frog-leg posture1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0001290Generalized hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0008947Infantile muscular hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0008936Muscular hypotonia of the trunk1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0001319Neonatal hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0030190Oral motor hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0006829Severe muscular hypotonia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0000297Facial hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0012389Appendicular hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0031139Frog-leg posture1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0001290Generalized hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0008947Infantile muscular hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0008936Muscular hypotonia of the trunk1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0001319Neonatal hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0030190Oral motor hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0006829Severe muscular hypotonia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0000297Facial hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0012389Appendicular hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0031139Frog-leg posture1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0001290Generalized hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0008947Infantile muscular hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0008936Muscular hypotonia of the trunk1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0001319Neonatal hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0030190Oral motor hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0006829Severe muscular hypotonia1DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0000297Facial hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0012389Appendicular hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0031139Frog-leg posture1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0001290Generalized hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0008947Infantile muscular hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0008936Muscular hypotonia of the trunk1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0001319Neonatal hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0030190Oral motor hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0006829Severe muscular hypotonia1DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0000297Facial hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0012389Appendicular hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0031139Frog-leg posture1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0001290Generalized hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0008947Infantile muscular hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0008936Muscular hypotonia of the trunk1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0001319Neonatal hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0030190Oral motor hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0006829Severe muscular hypotonia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0000297Facial hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0012389Appendicular hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0031139Frog-leg posture1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0001290Generalized hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0008947Infantile muscular hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0008936Muscular hypotonia of the trunk1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0001319Neonatal hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0030190Oral motor hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0006829Severe muscular hypotonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0000297Facial hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0012389Appendicular hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0031139Frog-leg posture1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0001290Generalized hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0008947Infantile muscular hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0008936Muscular hypotonia of the trunk1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0001319Neonatal hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0030190Oral motor hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0006829Severe muscular hypotonia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0000297Facial hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0012389Appendicular hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0031139Frog-leg posture1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0001290Generalized hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0008947Infantile muscular hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0008936Muscular hypotonia of the trunk1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0001319Neonatal hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0030190Oral motor hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0006829Severe muscular hypotonia1EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0000297Facial hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0012389Appendicular hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0031139Frog-leg posture1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0001290Generalized hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0008947Infantile muscular hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0008936Muscular hypotonia of the trunk1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0001319Neonatal hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0030190Oral motor hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0006829Severe muscular hypotonia1EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0000297Facial hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0012389Appendicular hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0031139Frog-leg posture1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0001290Generalized hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0008947Infantile muscular hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0008936Muscular hypotonia of the trunk1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0001319Neonatal hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0030190Oral motor hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0006829Severe muscular hypotonia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0000297Facial hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0012389Appendicular hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0031139Frog-leg posture1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0001290Generalized hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0008947Infantile muscular hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0008936Muscular hypotonia of the trunk1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0001319Neonatal hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0030190Oral motor hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0006829Severe muscular hypotonia1EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0000297Facial hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0012389Appendicular hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0031139Frog-leg posture1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0001290Generalized hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0001319Neonatal hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0030190Oral motor hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0006829Severe muscular hypotonia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0000297Facial hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0012389Appendicular hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0031139Frog-leg posture1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0001290Generalized hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0001319Neonatal hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0030190Oral motor hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0006829Severe muscular hypotonia1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0000297Facial hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0012389Appendicular hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0031139Frog-leg posture1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0001290Generalized hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0001319Neonatal hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0030190Oral motor hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0006829Severe muscular hypotonia1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0000297Facial hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0012389Appendicular hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0031139Frog-leg posture1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0001290Generalized hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0001319Neonatal hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0030190Oral motor hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0006829Severe muscular hypotonia1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0000297Facial hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0012389Appendicular hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0031139Frog-leg posture1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0001290Generalized hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0001319Neonatal hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0030190Oral motor hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0006829Severe muscular hypotonia1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0000297Facial hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0012389Appendicular hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0031139Frog-leg posture1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0001290Generalized hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0001319Neonatal hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0030190Oral motor hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0006829Severe muscular hypotonia1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0000297Facial hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0012389Appendicular hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0031139Frog-leg posture1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0001290Generalized hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0008947Infantile muscular hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0008936Muscular hypotonia of the trunk1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0001319Neonatal hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0030190Oral motor hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0006829Severe muscular hypotonia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0000297Facial hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0012389Appendicular hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0031139Frog-leg posture1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0001290Generalized hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0008947Infantile muscular hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0008936Muscular hypotonia of the trunk1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0001319Neonatal hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0030190Oral motor hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0006829Severe muscular hypotonia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0000297Facial hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0012389Appendicular hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0031139Frog-leg posture1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0001290Generalized hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0008947Infantile muscular hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0008936Muscular hypotonia of the trunk1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0001319Neonatal hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0030190Oral motor hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0006829Severe muscular hypotonia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0000297Facial hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0012389Appendicular hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0031139Frog-leg posture1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0001290Generalized hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0008947Infantile muscular hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0008936Muscular hypotonia of the trunk1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0001319Neonatal hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0030190Oral motor hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0006829Severe muscular hypotonia1ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0000297Facial hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0012389Appendicular hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0031139Frog-leg posture1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0001290Generalized hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0008947Infantile muscular hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0008936Muscular hypotonia of the trunk1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0001319Neonatal hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0030190Oral motor hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0006829Severe muscular hypotonia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0000297Facial hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0012389Appendicular hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0031139Frog-leg posture1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0001290Generalized hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0008947Infantile muscular hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0008936Muscular hypotonia of the trunk1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0001319Neonatal hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0030190Oral motor hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0006829Severe muscular hypotonia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0000297Facial hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0012389Appendicular hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0031139Frog-leg posture1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0001290Generalized hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0008947Infantile muscular hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0008936Muscular hypotonia of the trunk1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0001319Neonatal hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0030190Oral motor hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0006829Severe muscular hypotonia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0000297Facial hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0012389Appendicular hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0031139Frog-leg posture1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0001290Generalized hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0008947Infantile muscular hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0008936Muscular hypotonia of the trunk1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0001319Neonatal hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0030190Oral motor hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0006829Severe muscular hypotonia1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0000297Facial hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0012389Appendicular hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0031139Frog-leg posture1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0001290Generalized hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0008947Infantile muscular hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0008936Muscular hypotonia of the trunk1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0001319Neonatal hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0030190Oral motor hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0006829Severe muscular hypotonia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0000297Facial hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0012389Appendicular hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0031139Frog-leg posture1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0001290Generalized hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0008947Infantile muscular hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0008936Muscular hypotonia of the trunk1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0001319Neonatal hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0030190Oral motor hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0006829Severe muscular hypotonia1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0000297Facial hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0012389Appendicular hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0031139Frog-leg posture1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0001290Generalized hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0008947Infantile muscular hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0008936Muscular hypotonia of the trunk1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0001319Neonatal hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0030190Oral motor hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0006829Severe muscular hypotonia1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0000297Facial hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0012389Appendicular hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0031139Frog-leg posture1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0001290Generalized hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0008947Infantile muscular hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0008936Muscular hypotonia of the trunk1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0001319Neonatal hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0030190Oral motor hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0006829Severe muscular hypotonia1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0000297Facial hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0012389Appendicular hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0031139Frog-leg posture1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0001290Generalized hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0008947Infantile muscular hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0008936Muscular hypotonia of the trunk1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0001319Neonatal hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0030190Oral motor hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0006829Severe muscular hypotonia1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0000297Facial hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0012389Appendicular hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0031139Frog-leg posture1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0001290Generalized hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0008947Infantile muscular hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0008936Muscular hypotonia of the trunk1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0001319Neonatal hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0030190Oral motor hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0006829Severe muscular hypotonia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0000297Facial hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0012389Appendicular hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0031139Frog-leg posture1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0001290Generalized hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0008947Infantile muscular hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0008936Muscular hypotonia of the trunk1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0001319Neonatal hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0030190Oral motor hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0006829Severe muscular hypotonia1ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0000297Facial hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0012389Appendicular hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0031139Frog-leg posture1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0001290Generalized hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0008947Infantile muscular hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0008936Muscular hypotonia of the trunk1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0001319Neonatal hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0030190Oral motor hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0006829Severe muscular hypotonia1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0000297Facial hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0012389Appendicular hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0031139Frog-leg posture1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0001290Generalized hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0008947Infantile muscular hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0008936Muscular hypotonia of the trunk1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0001319Neonatal hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0030190Oral motor hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0006829Severe muscular hypotonia1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0000297Facial hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0012389Appendicular hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0031139Frog-leg posture1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0001290Generalized hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0008947Infantile muscular hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0008936Muscular hypotonia of the trunk1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0001319Neonatal hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0030190Oral motor hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0006829Severe muscular hypotonia1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0000297Facial hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0012389Appendicular hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0031139Frog-leg posture1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0001290Generalized hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0008947Infantile muscular hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0008936Muscular hypotonia of the trunk1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0001319Neonatal hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0030190Oral motor hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0006829Severe muscular hypotonia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0000297Facial hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0012389Appendicular hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0031139Frog-leg posture1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0001290Generalized hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0008947Infantile muscular hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0008936Muscular hypotonia of the trunk1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0001319Neonatal hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0030190Oral motor hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0006829Severe muscular hypotonia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0000297Facial hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0012389Appendicular hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0031139Frog-leg posture1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0001290Generalized hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0008947Infantile muscular hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0008936Muscular hypotonia of the trunk1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0001319Neonatal hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0030190Oral motor hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0006829Severe muscular hypotonia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0000297Facial hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0012389Appendicular hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0031139Frog-leg posture1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0001290Generalized hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0008947Infantile muscular hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0008936Muscular hypotonia of the trunk1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0001319Neonatal hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0030190Oral motor hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0006829Severe muscular hypotonia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0000297Facial hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0012389Appendicular hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0031139Frog-leg posture1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0001290Generalized hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0008947Infantile muscular hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0008936Muscular hypotonia of the trunk1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0001319Neonatal hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0030190Oral motor hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0006829Severe muscular hypotonia1FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0000297Facial hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0012389Appendicular hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0031139Frog-leg posture1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0001290Generalized hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0008947Infantile muscular hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0008936Muscular hypotonia of the trunk1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0001319Neonatal hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0030190Oral motor hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0006829Severe muscular hypotonia1FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0000297Facial hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0012389Appendicular hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0031139Frog-leg posture1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0001290Generalized hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0008947Infantile muscular hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0008936Muscular hypotonia of the trunk1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0001319Neonatal hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0030190Oral motor hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0006829Severe muscular hypotonia1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0000297Facial hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0012389Appendicular hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0031139Frog-leg posture1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0001290Generalized hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0008947Infantile muscular hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0008936Muscular hypotonia of the trunk1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0001319Neonatal hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0030190Oral motor hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0006829Severe muscular hypotonia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0000297Facial hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0012389Appendicular hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0031139Frog-leg posture1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0001290Generalized hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0008947Infantile muscular hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0001319Neonatal hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0030190Oral motor hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0006829Severe muscular hypotonia1FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0000297Facial hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0012389Appendicular hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0031139Frog-leg posture1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0001290Generalized hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0008947Infantile muscular hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0001319Neonatal hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0030190Oral motor hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0006829Severe muscular hypotonia1FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0000297Facial hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0012389Appendicular hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0031139Frog-leg posture1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0001290Generalized hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0008947Infantile muscular hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0001319Neonatal hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0030190Oral motor hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0006829Severe muscular hypotonia1FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0000297Facial hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0012389Appendicular hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0031139Frog-leg posture1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0001290Generalized hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0008947Infantile muscular hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0001319Neonatal hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0030190Oral motor hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0006829Severe muscular hypotonia1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0000297Facial hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0012389Appendicular hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0031139Frog-leg posture1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0001290Generalized hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0008947Infantile muscular hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0008936Muscular hypotonia of the trunk1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0001319Neonatal hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0030190Oral motor hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0006829Severe muscular hypotonia1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0000297Facial hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0012389Appendicular hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0031139Frog-leg posture1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0001290Generalized hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0008947Infantile muscular hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0001319Neonatal hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0030190Oral motor hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0006829Severe muscular hypotonia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0000297Facial hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0012389Appendicular hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0031139Frog-leg posture1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0001290Generalized hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0008947Infantile muscular hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0001319Neonatal hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0030190Oral motor hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0006829Severe muscular hypotonia1FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0000297Facial hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0012389Appendicular hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0031139Frog-leg posture1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0001290Generalized hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0008947Infantile muscular hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0001319Neonatal hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0030190Oral motor hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0006829Severe muscular hypotonia1FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0000297Facial hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0012389Appendicular hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0031139Frog-leg posture1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0001290Generalized hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0008947Infantile muscular hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0001319Neonatal hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0030190Oral motor hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0006829Severe muscular hypotonia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0000297Facial hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0012389Appendicular hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0031139Frog-leg posture1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0001290Generalized hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0008947Infantile muscular hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0001319Neonatal hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0030190Oral motor hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0006829Severe muscular hypotonia1FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0000297Facial hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0012389Appendicular hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0031139Frog-leg posture1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0001290Generalized hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0008947Infantile muscular hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0001319Neonatal hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0030190Oral motor hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0006829Severe muscular hypotonia1FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0000297Facial hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0012389Appendicular hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0031139Frog-leg posture1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0001290Generalized hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0008947Infantile muscular hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0001319Neonatal hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0030190Oral motor hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0006829Severe muscular hypotonia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0000297Facial hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0012389Appendicular hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0031139Frog-leg posture1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0001290Generalized hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0008947Infantile muscular hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0001319Neonatal hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0030190Oral motor hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0006829Severe muscular hypotonia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0000297Facial hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0012389Appendicular hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0031139Frog-leg posture1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0001290Generalized hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0008947Infantile muscular hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0001319Neonatal hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0030190Oral motor hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0006829Severe muscular hypotonia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0000297Facial hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0012389Appendicular hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0031139Frog-leg posture1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0001290Generalized hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0008947Infantile muscular hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0008936Muscular hypotonia of the trunk1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0001319Neonatal hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0030190Oral motor hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0006829Severe muscular hypotonia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0000297Facial hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0012389Appendicular hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0031139Frog-leg posture1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0001290Generalized hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0008947Infantile muscular hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0008936Muscular hypotonia of the trunk1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0001319Neonatal hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0030190Oral motor hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0006829Severe muscular hypotonia1FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0000297Facial hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0012389Appendicular hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0031139Frog-leg posture1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0001290Generalized hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0008947Infantile muscular hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0008936Muscular hypotonia of the trunk1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0001319Neonatal hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0030190Oral motor hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0006829Severe muscular hypotonia1FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0000297Facial hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0012389Appendicular hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0031139Frog-leg posture1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0001290Generalized hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0008947Infantile muscular hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0008936Muscular hypotonia of the trunk1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0001319Neonatal hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0030190Oral motor hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0006829Severe muscular hypotonia1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0000297Facial hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0012389Appendicular hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0031139Frog-leg posture1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0001290Generalized hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0008947Infantile muscular hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0008936Muscular hypotonia of the trunk1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0001319Neonatal hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0030190Oral motor hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0006829Severe muscular hypotonia1FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0000297Facial hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0012389Appendicular hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0031139Frog-leg posture1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0001290Generalized hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0008947Infantile muscular hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0008936Muscular hypotonia of the trunk1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0001319Neonatal hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0030190Oral motor hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0006829Severe muscular hypotonia1FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0000297Facial hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0012389Appendicular hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0031139Frog-leg posture1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0001290Generalized hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0008947Infantile muscular hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0008936Muscular hypotonia of the trunk1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0001319Neonatal hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0030190Oral motor hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0006829Severe muscular hypotonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0000297Facial hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0012389Appendicular hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0031139Frog-leg posture1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0001290Generalized hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0008947Infantile muscular hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0008936Muscular hypotonia of the trunk1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0001319Neonatal hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0030190Oral motor hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0006829Severe muscular hypotonia1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0000297Facial hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0012389Appendicular hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0031139Frog-leg posture1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0001290Generalized hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0008947Infantile muscular hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0008936Muscular hypotonia of the trunk1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0001319Neonatal hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0030190Oral motor hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0006829Severe muscular hypotonia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0000297Facial hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0012389Appendicular hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0031139Frog-leg posture1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0001290Generalized hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0008947Infantile muscular hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0008936Muscular hypotonia of the trunk1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0001319Neonatal hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0030190Oral motor hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0006829Severe muscular hypotonia1GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0000297Facial hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0012389Appendicular hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0031139Frog-leg posture1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0001290Generalized hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0008947Infantile muscular hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0008936Muscular hypotonia of the trunk1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0001319Neonatal hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0030190Oral motor hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0006829Severe muscular hypotonia1GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0000297Facial hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0012389Appendicular hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0031139Frog-leg posture1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0001290Generalized hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0008947Infantile muscular hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0008936Muscular hypotonia of the trunk1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0001319Neonatal hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0030190Oral motor hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0006829Severe muscular hypotonia1GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0000297Facial hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0012389Appendicular hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0031139Frog-leg posture1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0001290Generalized hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0008947Infantile muscular hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0008936Muscular hypotonia of the trunk1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0001319Neonatal hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0030190Oral motor hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0006829Severe muscular hypotonia1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0000297Facial hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0012389Appendicular hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0031139Frog-leg posture1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0001290Generalized hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0008947Infantile muscular hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0008936Muscular hypotonia of the trunk1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0001319Neonatal hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0030190Oral motor hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0006829Severe muscular hypotonia1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0000297Facial hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0012389Appendicular hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0031139Frog-leg posture1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0001290Generalized hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0008947Infantile muscular hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0008936Muscular hypotonia of the trunk1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0001319Neonatal hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0030190Oral motor hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0006829Severe muscular hypotonia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0000297Facial hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0012389Appendicular hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0031139Frog-leg posture1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0001290Generalized hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0008947Infantile muscular hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0008936Muscular hypotonia of the trunk1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0001319Neonatal hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0030190Oral motor hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0006829Severe muscular hypotonia1GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0000297Facial hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0012389Appendicular hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0031139Frog-leg posture1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0001290Generalized hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0008947Infantile muscular hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0008936Muscular hypotonia of the trunk1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0001319Neonatal hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0030190Oral motor hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0006829Severe muscular hypotonia1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0000297Facial hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0012389Appendicular hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0031139Frog-leg posture1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0001290Generalized hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0008947Infantile muscular hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0008936Muscular hypotonia of the trunk1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0001319Neonatal hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0030190Oral motor hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0006829Severe muscular hypotonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0000297Facial hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0012389Appendicular hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0031139Frog-leg posture1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0001290Generalized hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0008947Infantile muscular hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0008936Muscular hypotonia of the trunk1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0001319Neonatal hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0030190Oral motor hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0006829Severe muscular hypotonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0000297Facial hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0012389Appendicular hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0031139Frog-leg posture1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0001290Generalized hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0008947Infantile muscular hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0008936Muscular hypotonia of the trunk1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0001319Neonatal hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0030190Oral motor hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0006829Severe muscular hypotonia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0000297Facial hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0012389Appendicular hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0031139Frog-leg posture1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0001290Generalized hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0008947Infantile muscular hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0008936Muscular hypotonia of the trunk1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0001319Neonatal hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0030190Oral motor hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0006829Severe muscular hypotonia1GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0000297Facial hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0012389Appendicular hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0031139Frog-leg posture1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0001290Generalized hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0008947Infantile muscular hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0008936Muscular hypotonia of the trunk1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0001319Neonatal hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0030190Oral motor hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0006829Severe muscular hypotonia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0000297Facial hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0012389Appendicular hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0031139Frog-leg posture1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0001290Generalized hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0008947Infantile muscular hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0008936Muscular hypotonia of the trunk1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0001319Neonatal hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0030190Oral motor hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0006829Severe muscular hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0000297Facial hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0012389Appendicular hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0031139Frog-leg posture1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0001290Generalized hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0008947Infantile muscular hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0008936Muscular hypotonia of the trunk1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0001319Neonatal hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0030190Oral motor hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0006829Severe muscular hypotonia1GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0000297Facial hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0012389Appendicular hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0031139Frog-leg posture1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0001290Generalized hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0008947Infantile muscular hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0008936Muscular hypotonia of the trunk1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0001319Neonatal hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0030190Oral motor hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0006829Severe muscular hypotonia1GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0000297Facial hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0012389Appendicular hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0031139Frog-leg posture1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0001290Generalized hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0008947Infantile muscular hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0008936Muscular hypotonia of the trunk1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0001319Neonatal hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0030190Oral motor hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0006829Severe muscular hypotonia1GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0000297Facial hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0012389Appendicular hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0031139Frog-leg posture1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0001290Generalized hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0008947Infantile muscular hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0008936Muscular hypotonia of the trunk1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0001319Neonatal hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0030190Oral motor hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0006829Severe muscular hypotonia1GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0000297Facial hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0012389Appendicular hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0031139Frog-leg posture1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0001290Generalized hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0008947Infantile muscular hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0008936Muscular hypotonia of the trunk1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0001319Neonatal hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0030190Oral motor hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0006829Severe muscular hypotonia1GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0000297Facial hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0012389Appendicular hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0031139Frog-leg posture1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0001290Generalized hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0008947Infantile muscular hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0008936Muscular hypotonia of the trunk1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0001319Neonatal hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0030190Oral motor hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0006829Severe muscular hypotonia1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0000297Facial hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0012389Appendicular hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0031139Frog-leg posture1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0001290Generalized hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0008947Infantile muscular hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0008936Muscular hypotonia of the trunk1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0001319Neonatal hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0030190Oral motor hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0006829Severe muscular hypotonia1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0000297Facial hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0012389Appendicular hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0031139Frog-leg posture1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0001290Generalized hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0008947Infantile muscular hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0008936Muscular hypotonia of the trunk1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0001319Neonatal hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0030190Oral motor hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0006829Severe muscular hypotonia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0000297Facial hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0012389Appendicular hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0031139Frog-leg posture1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0001290Generalized hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0008947Infantile muscular hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0008936Muscular hypotonia of the trunk1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0001319Neonatal hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0030190Oral motor hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0006829Severe muscular hypotonia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0000297Facial hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0012389Appendicular hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0031139Frog-leg posture1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0001290Generalized hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0008947Infantile muscular hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0008936Muscular hypotonia of the trunk1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0001319Neonatal hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0030190Oral motor hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0006829Severe muscular hypotonia1GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0000297Facial hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0012389Appendicular hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0031139Frog-leg posture1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0001290Generalized hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0008947Infantile muscular hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0008936Muscular hypotonia of the trunk1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0001319Neonatal hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0030190Oral motor hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0006829Severe muscular hypotonia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0000297Facial hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0012389Appendicular hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0031139Frog-leg posture1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0001290Generalized hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0008947Infantile muscular hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0008936Muscular hypotonia of the trunk1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0001319Neonatal hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0030190Oral motor hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0006829Severe muscular hypotonia1HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0000297Facial hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0012389Appendicular hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0031139Frog-leg posture1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0001290Generalized hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0008947Infantile muscular hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0008936Muscular hypotonia of the trunk1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0001319Neonatal hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0030190Oral motor hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0006829Severe muscular hypotonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0000297Facial hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0012389Appendicular hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0031139Frog-leg posture1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0001290Generalized hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0008947Infantile muscular hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0008936Muscular hypotonia of the trunk1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0001319Neonatal hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0030190Oral motor hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0006829Severe muscular hypotonia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0000297Facial hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0012389Appendicular hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0031139Frog-leg posture1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0001290Generalized hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0008947Infantile muscular hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0008936Muscular hypotonia of the trunk1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0001319Neonatal hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0030190Oral motor hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0006829Severe muscular hypotonia1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0000297Facial hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0012389Appendicular hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0031139Frog-leg posture1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0001290Generalized hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0008947Infantile muscular hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0008936Muscular hypotonia of the trunk1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0001319Neonatal hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0030190Oral motor hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0006829Severe muscular hypotonia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0000297Facial hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0012389Appendicular hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0031139Frog-leg posture1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0001290Generalized hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0008947Infantile muscular hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0008936Muscular hypotonia of the trunk1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0001319Neonatal hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0030190Oral motor hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0006829Severe muscular hypotonia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0000297Facial hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0012389Appendicular hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0031139Frog-leg posture1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0001290Generalized hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0008947Infantile muscular hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0008936Muscular hypotonia of the trunk1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0001319Neonatal hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0030190Oral motor hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0006829Severe muscular hypotonia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0000297Facial hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0012389Appendicular hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0031139Frog-leg posture1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0001290Generalized hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0008947Infantile muscular hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0008936Muscular hypotonia of the trunk1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0001319Neonatal hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0030190Oral motor hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0006829Severe muscular hypotonia1HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0000297Facial hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0012389Appendicular hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0031139Frog-leg posture1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0001290Generalized hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0008947Infantile muscular hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0008936Muscular hypotonia of the trunk1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0001319Neonatal hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0030190Oral motor hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0006829Severe muscular hypotonia1HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0000297Facial hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0012389Appendicular hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0031139Frog-leg posture1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0001290Generalized hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0008947Infantile muscular hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0008936Muscular hypotonia of the trunk1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0001319Neonatal hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0030190Oral motor hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0006829Severe muscular hypotonia1HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0000297Facial hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0012389Appendicular hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0031139Frog-leg posture1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0001290Generalized hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0008947Infantile muscular hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0008936Muscular hypotonia of the trunk1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0001319Neonatal hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0030190Oral motor hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0006829Severe muscular hypotonia1HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0000297Facial hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0012389Appendicular hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0031139Frog-leg posture1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0001290Generalized hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0008947Infantile muscular hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0008936Muscular hypotonia of the trunk1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0001319Neonatal hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0030190Oral motor hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0006829Severe muscular hypotonia1HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0000297Facial hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0012389Appendicular hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0031139Frog-leg posture1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0001290Generalized hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0008947Infantile muscular hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0008936Muscular hypotonia of the trunk1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0001319Neonatal hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0030190Oral motor hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0006829Severe muscular hypotonia1HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0000297Facial hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0012389Appendicular hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0031139Frog-leg posture1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0001290Generalized hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0008947Infantile muscular hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0008936Muscular hypotonia of the trunk1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0001319Neonatal hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0030190Oral motor hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0006829Severe muscular hypotonia1HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0000297Facial hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0012389Appendicular hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0031139Frog-leg posture1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0001290Generalized hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0008947Infantile muscular hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0008936Muscular hypotonia of the trunk1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0001319Neonatal hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0030190Oral motor hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0006829Severe muscular hypotonia1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0000297Facial hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0012389Appendicular hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0031139Frog-leg posture1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0001290Generalized hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0008947Infantile muscular hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0008936Muscular hypotonia of the trunk1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0001319Neonatal hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0030190Oral motor hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0006829Severe muscular hypotonia1HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0000297Facial hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0012389Appendicular hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0031139Frog-leg posture1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0001290Generalized hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0008947Infantile muscular hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0008936Muscular hypotonia of the trunk1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0001319Neonatal hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0030190Oral motor hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0006829Severe muscular hypotonia1HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0000297Facial hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0012389Appendicular hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0031139Frog-leg posture1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0001290Generalized hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0008947Infantile muscular hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0008936Muscular hypotonia of the trunk1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0001319Neonatal hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0030190Oral motor hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0006829Severe muscular hypotonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0000297Facial hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0012389Appendicular hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0031139Frog-leg posture1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0001290Generalized hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0008947Infantile muscular hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0008936Muscular hypotonia of the trunk1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0001319Neonatal hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0030190Oral motor hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0006829Severe muscular hypotonia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0000297Facial hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0012389Appendicular hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0031139Frog-leg posture1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0001290Generalized hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0008947Infantile muscular hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0008936Muscular hypotonia of the trunk1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0001319Neonatal hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0030190Oral motor hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0006829Severe muscular hypotonia1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0000297Facial hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0012389Appendicular hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0031139Frog-leg posture1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0001290Generalized hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0008947Infantile muscular hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0008936Muscular hypotonia of the trunk1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0001319Neonatal hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0030190Oral motor hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0006829Severe muscular hypotonia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0000297Facial hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0012389Appendicular hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0031139Frog-leg posture1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0001290Generalized hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0008947Infantile muscular hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0008936Muscular hypotonia of the trunk1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0001319Neonatal hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0030190Oral motor hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0006829Severe muscular hypotonia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0000297Facial hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0012389Appendicular hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0031139Frog-leg posture1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0001290Generalized hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0008947Infantile muscular hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0008936Muscular hypotonia of the trunk1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0001319Neonatal hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0030190Oral motor hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0006829Severe muscular hypotonia1IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0000297Facial hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0012389Appendicular hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0031139Frog-leg posture1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0001290Generalized hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0008947Infantile muscular hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0008936Muscular hypotonia of the trunk1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0001319Neonatal hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0030190Oral motor hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0006829Severe muscular hypotonia1IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0000297Facial hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0012389Appendicular hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0031139Frog-leg posture1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0001290Generalized hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0008947Infantile muscular hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0008936Muscular hypotonia of the trunk1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0001319Neonatal hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0030190Oral motor hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0006829Severe muscular hypotonia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0000297Facial hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0012389Appendicular hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0031139Frog-leg posture1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0001290Generalized hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0008947Infantile muscular hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0008936Muscular hypotonia of the trunk1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0001319Neonatal hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0030190Oral motor hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0006829Severe muscular hypotonia1IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0000297Facial hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0012389Appendicular hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0031139Frog-leg posture1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0001290Generalized hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0008947Infantile muscular hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0008936Muscular hypotonia of the trunk1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0001319Neonatal hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0030190Oral motor hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0006829Severe muscular hypotonia1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0000297Facial hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0012389Appendicular hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0031139Frog-leg posture1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0001290Generalized hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0008947Infantile muscular hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0001319Neonatal hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0030190Oral motor hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0006829Severe muscular hypotonia1INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0000297Facial hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0012389Appendicular hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0031139Frog-leg posture1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0001290Generalized hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0008947Infantile muscular hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0001319Neonatal hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0030190Oral motor hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0006829Severe muscular hypotonia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0000297Facial hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0012389Appendicular hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0031139Frog-leg posture1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0001290Generalized hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0008947Infantile muscular hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0001319Neonatal hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0030190Oral motor hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0006829Severe muscular hypotonia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0000297Facial hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0012389Appendicular hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0031139Frog-leg posture1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0001290Generalized hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0008947Infantile muscular hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0001319Neonatal hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0030190Oral motor hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0006829Severe muscular hypotonia1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0000297Facial hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0012389Appendicular hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0031139Frog-leg posture1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0001290Generalized hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0008947Infantile muscular hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0001319Neonatal hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0030190Oral motor hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0006829Severe muscular hypotonia1INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0000297Facial hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0012389Appendicular hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0031139Frog-leg posture1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0001290Generalized hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0008947Infantile muscular hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0001319Neonatal hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0030190Oral motor hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0006829Severe muscular hypotonia1INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0000297Facial hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0012389Appendicular hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0031139Frog-leg posture1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0001290Generalized hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0008947Infantile muscular hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0008936Muscular hypotonia of the trunk1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0001319Neonatal hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0030190Oral motor hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0006829Severe muscular hypotonia1INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0000297Facial hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0012389Appendicular hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0031139Frog-leg posture1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0001290Generalized hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0008947Infantile muscular hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0008936Muscular hypotonia of the trunk1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0001319Neonatal hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0030190Oral motor hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0006829Severe muscular hypotonia1IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0000297Facial hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0012389Appendicular hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0031139Frog-leg posture1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0001290Generalized hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0008947Infantile muscular hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0008936Muscular hypotonia of the trunk1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0001319Neonatal hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0030190Oral motor hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0006829Severe muscular hypotonia1IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0000297Facial hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0012389Appendicular hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0031139Frog-leg posture1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0001290Generalized hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0008947Infantile muscular hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0008936Muscular hypotonia of the trunk1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0001319Neonatal hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0030190Oral motor hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0006829Severe muscular hypotonia1ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0000297Facial hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0012389Appendicular hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0031139Frog-leg posture1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0001290Generalized hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0008947Infantile muscular hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0008936Muscular hypotonia of the trunk1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0001319Neonatal hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0030190Oral motor hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0006829Severe muscular hypotonia1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0000297Facial hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0012389Appendicular hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0031139Frog-leg posture1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0001290Generalized hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0008947Infantile muscular hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0008936Muscular hypotonia of the trunk1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0001319Neonatal hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0030190Oral motor hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0006829Severe muscular hypotonia1ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0000297Facial hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0012389Appendicular hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0031139Frog-leg posture1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0001290Generalized hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0008947Infantile muscular hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0008936Muscular hypotonia of the trunk1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0001319Neonatal hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0030190Oral motor hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0006829Severe muscular hypotonia1ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0000297Facial hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0012389Appendicular hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0031139Frog-leg posture1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0001290Generalized hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0008947Infantile muscular hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0008936Muscular hypotonia of the trunk1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0001319Neonatal hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0030190Oral motor hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0006829Severe muscular hypotonia1ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0000297Facial hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0012389Appendicular hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0031139Frog-leg posture1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0001290Generalized hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0008947Infantile muscular hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0008936Muscular hypotonia of the trunk1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0001319Neonatal hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0030190Oral motor hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0006829Severe muscular hypotonia1IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0000297Facial hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0012389Appendicular hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0031139Frog-leg posture1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0001290Generalized hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0008947Infantile muscular hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0008936Muscular hypotonia of the trunk1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0001319Neonatal hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0030190Oral motor hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0006829Severe muscular hypotonia1JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0000297Facial hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0012389Appendicular hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0031139Frog-leg posture1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0001290Generalized hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0008947Infantile muscular hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0008936Muscular hypotonia of the trunk1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0001319Neonatal hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0030190Oral motor hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0006829Severe muscular hypotonia1KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0000297Facial hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0012389Appendicular hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0031139Frog-leg posture1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0001290Generalized hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0008947Infantile muscular hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0008936Muscular hypotonia of the trunk1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0001319Neonatal hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0030190Oral motor hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0006829Severe muscular hypotonia1KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0000297Facial hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0012389Appendicular hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0031139Frog-leg posture1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0001290Generalized hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0008947Infantile muscular hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0008936Muscular hypotonia of the trunk1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0001319Neonatal hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0030190Oral motor hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0006829Severe muscular hypotonia1KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0000297Facial hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0012389Appendicular hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0031139Frog-leg posture1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0001290Generalized hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0008947Infantile muscular hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0008936Muscular hypotonia of the trunk1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0001319Neonatal hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0030190Oral motor hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0006829Severe muscular hypotonia1KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0000297Facial hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0012389Appendicular hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0031139Frog-leg posture1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0001290Generalized hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0008947Infantile muscular hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0001319Neonatal hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0030190Oral motor hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0006829Severe muscular hypotonia1KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0000297Facial hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0012389Appendicular hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0031139Frog-leg posture1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0001290Generalized hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0008947Infantile muscular hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0001319Neonatal hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0030190Oral motor hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0006829Severe muscular hypotonia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0000297Facial hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0012389Appendicular hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0031139Frog-leg posture1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0001290Generalized hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0008947Infantile muscular hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0001319Neonatal hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0030190Oral motor hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0006829Severe muscular hypotonia1KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0000297Facial hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0012389Appendicular hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0031139Frog-leg posture1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0001290Generalized hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0008947Infantile muscular hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0001319Neonatal hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0030190Oral motor hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0006829Severe muscular hypotonia1KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0000297Facial hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0012389Appendicular hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0031139Frog-leg posture1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0001290Generalized hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0008947Infantile muscular hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0001319Neonatal hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0030190Oral motor hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0006829Severe muscular hypotonia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0000297Facial hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0012389Appendicular hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0031139Frog-leg posture1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0001290Generalized hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0008947Infantile muscular hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0001319Neonatal hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0030190Oral motor hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0006829Severe muscular hypotonia1KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0000297Facial hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0012389Appendicular hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0031139Frog-leg posture1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0001290Generalized hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0008947Infantile muscular hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0001319Neonatal hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0030190Oral motor hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0006829Severe muscular hypotonia1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0000297Facial hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0012389Appendicular hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0031139Frog-leg posture1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0001290Generalized hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0008947Infantile muscular hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0001319Neonatal hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0030190Oral motor hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0006829Severe muscular hypotonia1KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0000297Facial hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0012389Appendicular hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0031139Frog-leg posture1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0001290Generalized hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0008947Infantile muscular hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0001319Neonatal hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0030190Oral motor hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0006829Severe muscular hypotonia1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0000297Facial hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0012389Appendicular hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0031139Frog-leg posture1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0001290Generalized hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0008947Infantile muscular hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0001319Neonatal hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0030190Oral motor hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0006829Severe muscular hypotonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0000297Facial hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0012389Appendicular hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0031139Frog-leg posture1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0001290Generalized hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0008947Infantile muscular hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0001319Neonatal hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0030190Oral motor hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0006829Severe muscular hypotonia1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0000297Facial hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0012389Appendicular hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0031139Frog-leg posture1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0001290Generalized hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0008947Infantile muscular hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0008936Muscular hypotonia of the trunk1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0001319Neonatal hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0030190Oral motor hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0006829Severe muscular hypotonia1KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0000297Facial hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0012389Appendicular hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0031139Frog-leg posture1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0001290Generalized hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0008947Infantile muscular hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0008936Muscular hypotonia of the trunk1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0001319Neonatal hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0030190Oral motor hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0006829Severe muscular hypotonia1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0000297Facial hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0012389Appendicular hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0031139Frog-leg posture1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0001290Generalized hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0008947Infantile muscular hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0008936Muscular hypotonia of the trunk1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0001319Neonatal hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0030190Oral motor hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0006829Severe muscular hypotonia1KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0000297Facial hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0012389Appendicular hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0031139Frog-leg posture1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0001290Generalized hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0008947Infantile muscular hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0001319Neonatal hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0030190Oral motor hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0006829Severe muscular hypotonia1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0000297Facial hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0012389Appendicular hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0031139Frog-leg posture1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0001290Generalized hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0008947Infantile muscular hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0001319Neonatal hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0030190Oral motor hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0006829Severe muscular hypotonia1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0000297Facial hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0012389Appendicular hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0031139Frog-leg posture1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0001290Generalized hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0008947Infantile muscular hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0001319Neonatal hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0030190Oral motor hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0006829Severe muscular hypotonia1KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0000297Facial hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0012389Appendicular hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0031139Frog-leg posture1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0001290Generalized hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0008947Infantile muscular hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0001319Neonatal hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0030190Oral motor hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0006829Severe muscular hypotonia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0000297Facial hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0012389Appendicular hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0031139Frog-leg posture1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0001290Generalized hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0008947Infantile muscular hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0001319Neonatal hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0030190Oral motor hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0006829Severe muscular hypotonia1KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0000297Facial hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0012389Appendicular hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0031139Frog-leg posture1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0001290Generalized hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0008947Infantile muscular hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0001319Neonatal hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0030190Oral motor hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0006829Severe muscular hypotonia1KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0000297Facial hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0012389Appendicular hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0031139Frog-leg posture1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0001290Generalized hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0008947Infantile muscular hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0008936Muscular hypotonia of the trunk1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0001319Neonatal hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0030190Oral motor hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0006829Severe muscular hypotonia1KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0000297Facial hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0012389Appendicular hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0031139Frog-leg posture1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0001290Generalized hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0008947Infantile muscular hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0008936Muscular hypotonia of the trunk1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0001319Neonatal hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0030190Oral motor hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0006829Severe muscular hypotonia1KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0000297Facial hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0012389Appendicular hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0031139Frog-leg posture1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0001290Generalized hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0008947Infantile muscular hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0008936Muscular hypotonia of the trunk1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0001319Neonatal hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0030190Oral motor hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0006829Severe muscular hypotonia1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0000297Facial hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0012389Appendicular hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0031139Frog-leg posture1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0001290Generalized hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0008947Infantile muscular hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0008936Muscular hypotonia of the trunk1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0001319Neonatal hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0030190Oral motor hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0006829Severe muscular hypotonia1KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0000297Facial hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0012389Appendicular hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0031139Frog-leg posture1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0001290Generalized hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0008947Infantile muscular hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0008936Muscular hypotonia of the trunk1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0001319Neonatal hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0030190Oral motor hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0006829Severe muscular hypotonia1KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0000297Facial hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0012389Appendicular hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0031139Frog-leg posture1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0001290Generalized hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0008947Infantile muscular hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0008936Muscular hypotonia of the trunk1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0001319Neonatal hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0030190Oral motor hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0006829Severe muscular hypotonia1KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0000297Facial hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0012389Appendicular hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0031139Frog-leg posture1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0001290Generalized hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0008947Infantile muscular hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0008936Muscular hypotonia of the trunk1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0001319Neonatal hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0030190Oral motor hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0006829Severe muscular hypotonia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0000297Facial hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0012389Appendicular hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0031139Frog-leg posture1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0001290Generalized hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0008947Infantile muscular hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0008936Muscular hypotonia of the trunk1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0001319Neonatal hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0030190Oral motor hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0006829Severe muscular hypotonia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0000297Facial hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0012389Appendicular hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0031139Frog-leg posture1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0001290Generalized hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0008947Infantile muscular hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0008936Muscular hypotonia of the trunk1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0001319Neonatal hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0030190Oral motor hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0006829Severe muscular hypotonia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0000297Facial hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0012389Appendicular hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0031139Frog-leg posture1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0001290Generalized hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0008947Infantile muscular hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0008936Muscular hypotonia of the trunk1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0001319Neonatal hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0030190Oral motor hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0006829Severe muscular hypotonia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0000297Facial hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0012389Appendicular hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0031139Frog-leg posture1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0001290Generalized hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0008947Infantile muscular hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0008936Muscular hypotonia of the trunk1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0001319Neonatal hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0030190Oral motor hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0006829Severe muscular hypotonia1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0000297Facial hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0012389Appendicular hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0031139Frog-leg posture1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0001290Generalized hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0008947Infantile muscular hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0008936Muscular hypotonia of the trunk1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0001319Neonatal hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0030190Oral motor hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0006829Severe muscular hypotonia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0000297Facial hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0012389Appendicular hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0031139Frog-leg posture1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0001290Generalized hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0008947Infantile muscular hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0008936Muscular hypotonia of the trunk1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0001319Neonatal hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0030190Oral motor hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0006829Severe muscular hypotonia1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0000297Facial hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0012389Appendicular hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0031139Frog-leg posture1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0001290Generalized hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0008947Infantile muscular hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0008936Muscular hypotonia of the trunk1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0001319Neonatal hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0030190Oral motor hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0006829Severe muscular hypotonia1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0000297Facial hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0012389Appendicular hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0031139Frog-leg posture1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0001290Generalized hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0008947Infantile muscular hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0008936Muscular hypotonia of the trunk1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0001319Neonatal hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0030190Oral motor hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0006829Severe muscular hypotonia1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0000297Facial hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0012389Appendicular hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0031139Frog-leg posture1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0001290Generalized hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0008947Infantile muscular hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0008936Muscular hypotonia of the trunk1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0001319Neonatal hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0030190Oral motor hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0006829Severe muscular hypotonia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0000297Facial hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0012389Appendicular hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0031139Frog-leg posture1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0001290Generalized hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0008947Infantile muscular hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0008936Muscular hypotonia of the trunk1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0001319Neonatal hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0030190Oral motor hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0006829Severe muscular hypotonia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0000297Facial hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0012389Appendicular hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0031139Frog-leg posture1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0001290Generalized hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0008947Infantile muscular hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0008936Muscular hypotonia of the trunk1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0001319Neonatal hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0030190Oral motor hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0006829Severe muscular hypotonia1LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0000297Facial hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0012389Appendicular hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0031139Frog-leg posture1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0001290Generalized hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0008947Infantile muscular hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0008936Muscular hypotonia of the trunk1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0001319Neonatal hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0030190Oral motor hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0006829Severe muscular hypotonia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0000297Facial hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0012389Appendicular hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0031139Frog-leg posture1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0001290Generalized hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0008947Infantile muscular hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0008936Muscular hypotonia of the trunk1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0001319Neonatal hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0030190Oral motor hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0006829Severe muscular hypotonia1LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0000297Facial hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0012389Appendicular hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0031139Frog-leg posture1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0001290Generalized hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0008947Infantile muscular hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0008936Muscular hypotonia of the trunk1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0001319Neonatal hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0030190Oral motor hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0006829Severe muscular hypotonia1LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0000297Facial hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0012389Appendicular hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0031139Frog-leg posture1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0001290Generalized hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0008947Infantile muscular hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0008936Muscular hypotonia of the trunk1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0001319Neonatal hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0030190Oral motor hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0006829Severe muscular hypotonia1LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0000297Facial hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0012389Appendicular hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0031139Frog-leg posture1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0001290Generalized hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0008947Infantile muscular hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0008936Muscular hypotonia of the trunk1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0001319Neonatal hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0030190Oral motor hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0006829Severe muscular hypotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0000297Facial hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0012389Appendicular hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0031139Frog-leg posture1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0001290Generalized hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0008947Infantile muscular hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0008936Muscular hypotonia of the trunk1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0001319Neonatal hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0030190Oral motor hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0006829Severe muscular hypotonia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0000297Facial hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0012389Appendicular hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0031139Frog-leg posture1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0001290Generalized hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0008947Infantile muscular hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0008936Muscular hypotonia of the trunk1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0001319Neonatal hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0030190Oral motor hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0006829Severe muscular hypotonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0000297Facial hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0012389Appendicular hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0031139Frog-leg posture1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0001290Generalized hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0008947Infantile muscular hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0001319Neonatal hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0030190Oral motor hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0006829Severe muscular hypotonia1LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0000297Facial hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0012389Appendicular hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0031139Frog-leg posture1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0001290Generalized hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0008947Infantile muscular hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0001319Neonatal hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0030190Oral motor hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0006829Severe muscular hypotonia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0000297Facial hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0012389Appendicular hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0031139Frog-leg posture1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0001290Generalized hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0008947Infantile muscular hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0001319Neonatal hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0030190Oral motor hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0006829Severe muscular hypotonia1LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0000297Facial hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0012389Appendicular hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0031139Frog-leg posture1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0001290Generalized hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0008947Infantile muscular hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0008936Muscular hypotonia of the trunk1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0001319Neonatal hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0030190Oral motor hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0006829Severe muscular hypotonia1LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0000297Facial hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0012389Appendicular hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0031139Frog-leg posture1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0001290Generalized hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0008947Infantile muscular hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0008936Muscular hypotonia of the trunk1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0001319Neonatal hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0030190Oral motor hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0006829Severe muscular hypotonia1LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0000297Facial hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0012389Appendicular hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0031139Frog-leg posture1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0001290Generalized hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0008947Infantile muscular hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0008936Muscular hypotonia of the trunk1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0001319Neonatal hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0030190Oral motor hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0006829Severe muscular hypotonia1LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0000297Facial hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0012389Appendicular hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0031139Frog-leg posture1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0001290Generalized hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0008947Infantile muscular hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0008936Muscular hypotonia of the trunk1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0001319Neonatal hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0030190Oral motor hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0006829Severe muscular hypotonia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0000297Facial hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0012389Appendicular hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0031139Frog-leg posture1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0001290Generalized hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0008947Infantile muscular hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0008936Muscular hypotonia of the trunk1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0001319Neonatal hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0030190Oral motor hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0006829Severe muscular hypotonia1LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0000297Facial hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0012389Appendicular hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0031139Frog-leg posture1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0001290Generalized hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0008947Infantile muscular hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0008936Muscular hypotonia of the trunk1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0001319Neonatal hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0030190Oral motor hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0006829Severe muscular hypotonia1LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0000297Facial hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0012389Appendicular hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0031139Frog-leg posture1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0001290Generalized hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0008947Infantile muscular hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0008936Muscular hypotonia of the trunk1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0001319Neonatal hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0030190Oral motor hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0006829Severe muscular hypotonia1LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0000297Facial hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0012389Appendicular hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0031139Frog-leg posture1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0001290Generalized hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0008947Infantile muscular hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0008936Muscular hypotonia of the trunk1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0001319Neonatal hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0030190Oral motor hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0006829Severe muscular hypotonia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0000297Facial hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0012389Appendicular hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0031139Frog-leg posture1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0001290Generalized hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0008947Infantile muscular hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0008936Muscular hypotonia of the trunk1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0001319Neonatal hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0030190Oral motor hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0006829Severe muscular hypotonia1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0000297Facial hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0012389Appendicular hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0031139Frog-leg posture1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0001290Generalized hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0008947Infantile muscular hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0008936Muscular hypotonia of the trunk1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0001319Neonatal hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0030190Oral motor hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0006829Severe muscular hypotonia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0000297Facial hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0012389Appendicular hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0031139Frog-leg posture1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0001290Generalized hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0008947Infantile muscular hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0008936Muscular hypotonia of the trunk1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0001319Neonatal hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0030190Oral motor hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0006829Severe muscular hypotonia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0000297Facial hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0012389Appendicular hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0031139Frog-leg posture1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0001290Generalized hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0008947Infantile muscular hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0008936Muscular hypotonia of the trunk1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0001319Neonatal hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0030190Oral motor hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0006829Severe muscular hypotonia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0000297Facial hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0012389Appendicular hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0031139Frog-leg posture1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0001290Generalized hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0008947Infantile muscular hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0008936Muscular hypotonia of the trunk1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0001319Neonatal hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0030190Oral motor hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0006829Severe muscular hypotonia1MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0000297Facial hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0012389Appendicular hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0031139Frog-leg posture1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0001290Generalized hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0008947Infantile muscular hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0008936Muscular hypotonia of the trunk1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0001319Neonatal hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0030190Oral motor hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0006829Severe muscular hypotonia1MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0000297Facial hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0012389Appendicular hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0031139Frog-leg posture1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0001290Generalized hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0008947Infantile muscular hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0008936Muscular hypotonia of the trunk1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0001319Neonatal hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0030190Oral motor hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0006829Severe muscular hypotonia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0000297Facial hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0012389Appendicular hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0031139Frog-leg posture1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0001290Generalized hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0008947Infantile muscular hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0008936Muscular hypotonia of the trunk1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0001319Neonatal hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0030190Oral motor hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0006829Severe muscular hypotonia1MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0000297Facial hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0012389Appendicular hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0031139Frog-leg posture1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0001290Generalized hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0008947Infantile muscular hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0008936Muscular hypotonia of the trunk1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0001319Neonatal hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0030190Oral motor hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0006829Severe muscular hypotonia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0000297Facial hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0012389Appendicular hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0031139Frog-leg posture1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0001290Generalized hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0008947Infantile muscular hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0008936Muscular hypotonia of the trunk1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0001319Neonatal hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0030190Oral motor hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0006829Severe muscular hypotonia1MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0000297Facial hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0012389Appendicular hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0031139Frog-leg posture1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0001290Generalized hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0008947Infantile muscular hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0008936Muscular hypotonia of the trunk1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0001319Neonatal hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0030190Oral motor hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0006829Severe muscular hypotonia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0000297Facial hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0012389Appendicular hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0031139Frog-leg posture1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0001290Generalized hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0008947Infantile muscular hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0008936Muscular hypotonia of the trunk1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0001319Neonatal hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0030190Oral motor hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0006829Severe muscular hypotonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0000297Facial hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0012389Appendicular hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0031139Frog-leg posture1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0001290Generalized hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0008947Infantile muscular hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0008936Muscular hypotonia of the trunk1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0001319Neonatal hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0030190Oral motor hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0006829Severe muscular hypotonia1MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0000297Facial hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0012389Appendicular hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0031139Frog-leg posture1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0001290Generalized hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0008947Infantile muscular hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0008936Muscular hypotonia of the trunk1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0001319Neonatal hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0030190Oral motor hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0006829Severe muscular hypotonia1MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0000297Facial hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0012389Appendicular hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0031139Frog-leg posture1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0001290Generalized hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0008947Infantile muscular hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0008936Muscular hypotonia of the trunk1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0001319Neonatal hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0030190Oral motor hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0006829Severe muscular hypotonia1MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0000297Facial hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0012389Appendicular hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0031139Frog-leg posture1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0001290Generalized hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0008947Infantile muscular hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0008936Muscular hypotonia of the trunk1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0001319Neonatal hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0030190Oral motor hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0006829Severe muscular hypotonia1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0000297Facial hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0012389Appendicular hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0031139Frog-leg posture1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0001290Generalized hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0008947Infantile muscular hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0008936Muscular hypotonia of the trunk1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0001319Neonatal hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0030190Oral motor hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0006829Severe muscular hypotonia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0000297Facial hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0012389Appendicular hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0031139Frog-leg posture1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0001290Generalized hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0008947Infantile muscular hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0008936Muscular hypotonia of the trunk1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0001319Neonatal hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0030190Oral motor hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0006829Severe muscular hypotonia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0000297Facial hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0012389Appendicular hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0031139Frog-leg posture1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0001290Generalized hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0008947Infantile muscular hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0008936Muscular hypotonia of the trunk1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0001319Neonatal hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0030190Oral motor hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0006829Severe muscular hypotonia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0000297Facial hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0012389Appendicular hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0031139Frog-leg posture1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0001290Generalized hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0008947Infantile muscular hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0008936Muscular hypotonia of the trunk1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0001319Neonatal hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0030190Oral motor hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0006829Severe muscular hypotonia1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0000297Facial hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0012389Appendicular hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0031139Frog-leg posture1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0001290Generalized hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0008947Infantile muscular hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0001319Neonatal hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0030190Oral motor hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0006829Severe muscular hypotonia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0000297Facial hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0012389Appendicular hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0031139Frog-leg posture1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0001290Generalized hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0008947Infantile muscular hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0001319Neonatal hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0030190Oral motor hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0006829Severe muscular hypotonia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0000297Facial hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0012389Appendicular hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0031139Frog-leg posture1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0001290Generalized hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0008947Infantile muscular hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0001319Neonatal hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0030190Oral motor hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0006829Severe muscular hypotonia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0000297Facial hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0012389Appendicular hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0031139Frog-leg posture1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0001290Generalized hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0008947Infantile muscular hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0001319Neonatal hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0030190Oral motor hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0006829Severe muscular hypotonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0000297Facial hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0012389Appendicular hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0031139Frog-leg posture1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0001290Generalized hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0008947Infantile muscular hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0001319Neonatal hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0030190Oral motor hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0006829Severe muscular hypotonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0000297Facial hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0012389Appendicular hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0031139Frog-leg posture1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0001290Generalized hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0008947Infantile muscular hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0001319Neonatal hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0030190Oral motor hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0006829Severe muscular hypotonia1MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0000297Facial hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0012389Appendicular hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0031139Frog-leg posture1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0001290Generalized hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0008947Infantile muscular hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0008936Muscular hypotonia of the trunk1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0001319Neonatal hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0030190Oral motor hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0006829Severe muscular hypotonia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0000297Facial hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0012389Appendicular hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0031139Frog-leg posture1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0001290Generalized hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0008947Infantile muscular hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0008936Muscular hypotonia of the trunk1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0001319Neonatal hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0030190Oral motor hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0006829Severe muscular hypotonia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0000297Facial hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0012389Appendicular hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0031139Frog-leg posture1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0001290Generalized hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0008947Infantile muscular hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0008936Muscular hypotonia of the trunk1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0001319Neonatal hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0030190Oral motor hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0006829Severe muscular hypotonia1MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0000297Facial hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0012389Appendicular hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0031139Frog-leg posture1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0001290Generalized hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0008947Infantile muscular hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0008936Muscular hypotonia of the trunk1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0001319Neonatal hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0030190Oral motor hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0006829Severe muscular hypotonia1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0000297Facial hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0012389Appendicular hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0031139Frog-leg posture1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0001290Generalized hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0008947Infantile muscular hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0008936Muscular hypotonia of the trunk1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0001319Neonatal hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0030190Oral motor hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0006829Severe muscular hypotonia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0000297Facial hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0012389Appendicular hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0031139Frog-leg posture1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0001290Generalized hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0008947Infantile muscular hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0008936Muscular hypotonia of the trunk1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0001319Neonatal hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0030190Oral motor hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0006829Severe muscular hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0000297Facial hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0012389Appendicular hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0031139Frog-leg posture1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0001290Generalized hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0008947Infantile muscular hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0008936Muscular hypotonia of the trunk1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0001319Neonatal hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0030190Oral motor hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0006829Severe muscular hypotonia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0000297Facial hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0012389Appendicular hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0031139Frog-leg posture1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0001290Generalized hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0008947Infantile muscular hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0008936Muscular hypotonia of the trunk1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0001319Neonatal hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0030190Oral motor hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0006829Severe muscular hypotonia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0000297Facial hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0012389Appendicular hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0031139Frog-leg posture1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0001290Generalized hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0008947Infantile muscular hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0001319Neonatal hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0030190Oral motor hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0006829Severe muscular hypotonia1MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0000297Facial hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0012389Appendicular hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0031139Frog-leg posture1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0001290Generalized hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0001319Neonatal hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0030190Oral motor hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0006829Severe muscular hypotonia1MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0000297Facial hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0012389Appendicular hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0031139Frog-leg posture1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0001290Generalized hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0001319Neonatal hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0030190Oral motor hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0006829Severe muscular hypotonia1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0000297Facial hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0012389Appendicular hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0031139Frog-leg posture1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0001290Generalized hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0001319Neonatal hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0030190Oral motor hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0006829Severe muscular hypotonia1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0000297Facial hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0012389Appendicular hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0031139Frog-leg posture1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0001290Generalized hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0001319Neonatal hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0030190Oral motor hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0006829Severe muscular hypotonia1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0000297Facial hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0012389Appendicular hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0031139Frog-leg posture1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0001290Generalized hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0008947Infantile muscular hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0008936Muscular hypotonia of the trunk1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0001319Neonatal hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0030190Oral motor hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0006829Severe muscular hypotonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0000297Facial hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0012389Appendicular hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0031139Frog-leg posture1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0001290Generalized hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0008947Infantile muscular hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0008936Muscular hypotonia of the trunk1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0001319Neonatal hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0030190Oral motor hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0006829Severe muscular hypotonia1MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0000297Facial hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0012389Appendicular hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0031139Frog-leg posture1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0001290Generalized hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0008947Infantile muscular hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0008936Muscular hypotonia of the trunk1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0001319Neonatal hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0030190Oral motor hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0006829Severe muscular hypotonia1MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0000297Facial hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0012389Appendicular hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0031139Frog-leg posture1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0001290Generalized hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0008947Infantile muscular hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0008936Muscular hypotonia of the trunk1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0001319Neonatal hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0030190Oral motor hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0006829Severe muscular hypotonia1MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0000297Facial hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0012389Appendicular hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0031139Frog-leg posture1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0001290Generalized hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0008947Infantile muscular hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0008936Muscular hypotonia of the trunk1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0001319Neonatal hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0030190Oral motor hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0006829Severe muscular hypotonia1MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0000297Facial hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0012389Appendicular hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0031139Frog-leg posture1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0001290Generalized hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0008947Infantile muscular hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0008936Muscular hypotonia of the trunk1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0001319Neonatal hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0030190Oral motor hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0006829Severe muscular hypotonia1MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0000297Facial hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0012389Appendicular hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0031139Frog-leg posture1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0001290Generalized hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0008947Infantile muscular hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0008936Muscular hypotonia of the trunk1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0001319Neonatal hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0030190Oral motor hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0006829Severe muscular hypotonia1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0000297Facial hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0012389Appendicular hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0031139Frog-leg posture1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0001290Generalized hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0008947Infantile muscular hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0008936Muscular hypotonia of the trunk1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0001319Neonatal hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0030190Oral motor hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0006829Severe muscular hypotonia1MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0000297Facial hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0012389Appendicular hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0031139Frog-leg posture1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0001290Generalized hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0008947Infantile muscular hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0008936Muscular hypotonia of the trunk1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0001319Neonatal hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0030190Oral motor hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0006829Severe muscular hypotonia1MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0000297Facial hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0012389Appendicular hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0031139Frog-leg posture1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0001290Generalized hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0008947Infantile muscular hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0008936Muscular hypotonia of the trunk1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0001319Neonatal hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0030190Oral motor hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0006829Severe muscular hypotonia1MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0000297Facial hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0012389Appendicular hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0031139Frog-leg posture1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0001290Generalized hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0008947Infantile muscular hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0008936Muscular hypotonia of the trunk1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0001319Neonatal hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0030190Oral motor hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0006829Severe muscular hypotonia1MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0000297Facial hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0012389Appendicular hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0031139Frog-leg posture1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0001290Generalized hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0008947Infantile muscular hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0008936Muscular hypotonia of the trunk1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0001319Neonatal hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0030190Oral motor hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0006829Severe muscular hypotonia1NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0000297Facial hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0012389Appendicular hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0031139Frog-leg posture1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0001290Generalized hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0008947Infantile muscular hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0008936Muscular hypotonia of the trunk1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0001319Neonatal hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0030190Oral motor hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0006829Severe muscular hypotonia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0000297Facial hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0012389Appendicular hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0031139Frog-leg posture1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0001290Generalized hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0008947Infantile muscular hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0008936Muscular hypotonia of the trunk1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0001319Neonatal hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0030190Oral motor hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0006829Severe muscular hypotonia1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0000297Facial hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0012389Appendicular hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0031139Frog-leg posture1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0001290Generalized hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0008947Infantile muscular hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0008936Muscular hypotonia of the trunk1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0001319Neonatal hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0030190Oral motor hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0006829Severe muscular hypotonia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0000297Facial hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0012389Appendicular hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0031139Frog-leg posture1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0001290Generalized hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0001319Neonatal hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0030190Oral motor hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0006829Severe muscular hypotonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0000297Facial hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0012389Appendicular hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0031139Frog-leg posture1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0001290Generalized hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0001319Neonatal hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0030190Oral motor hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0006829Severe muscular hypotonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0000297Facial hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0012389Appendicular hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0031139Frog-leg posture1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0001290Generalized hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0001319Neonatal hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0030190Oral motor hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0006829Severe muscular hypotonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0000297Facial hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0012389Appendicular hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0031139Frog-leg posture1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0001290Generalized hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0001319Neonatal hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0030190Oral motor hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0006829Severe muscular hypotonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0000297Facial hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0012389Appendicular hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0031139Frog-leg posture1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0001290Generalized hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0001319Neonatal hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0030190Oral motor hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0006829Severe muscular hypotonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0000297Facial hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0012389Appendicular hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0031139Frog-leg posture1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0001290Generalized hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0001319Neonatal hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0030190Oral motor hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0006829Severe muscular hypotonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0000297Facial hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0012389Appendicular hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0031139Frog-leg posture1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0001290Generalized hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0001319Neonatal hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0030190Oral motor hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0006829Severe muscular hypotonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0000297Facial hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0012389Appendicular hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0031139Frog-leg posture1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0001290Generalized hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0001319Neonatal hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0030190Oral motor hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0006829Severe muscular hypotonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0000297Facial hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0012389Appendicular hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0031139Frog-leg posture1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0001290Generalized hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0001319Neonatal hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0030190Oral motor hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0006829Severe muscular hypotonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0000297Facial hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0012389Appendicular hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0031139Frog-leg posture1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0001290Generalized hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0001319Neonatal hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0030190Oral motor hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0000297Facial hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0012389Appendicular hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0031139Frog-leg posture1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0001290Generalized hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0001319Neonatal hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0030190Oral motor hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0000297Facial hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0012389Appendicular hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0031139Frog-leg posture1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0001290Generalized hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0001319Neonatal hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0030190Oral motor hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0000297Facial hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0012389Appendicular hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0031139Frog-leg posture1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0001290Generalized hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0001319Neonatal hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0030190Oral motor hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0000297Facial hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0012389Appendicular hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0031139Frog-leg posture1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0001290Generalized hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0001319Neonatal hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0030190Oral motor hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0000297Facial hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0012389Appendicular hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0031139Frog-leg posture1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0001290Generalized hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0001319Neonatal hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0030190Oral motor hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0000297Facial hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0012389Appendicular hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0031139Frog-leg posture1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0001290Generalized hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0001319Neonatal hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0030190Oral motor hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0006829Severe muscular hypotonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0000297Facial hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0012389Appendicular hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0031139Frog-leg posture1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0001290Generalized hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0001319Neonatal hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0030190Oral motor hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0006829Severe muscular hypotonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0000297Facial hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0012389Appendicular hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0031139Frog-leg posture1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0001290Generalized hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0008947Infantile muscular hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0001319Neonatal hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0030190Oral motor hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0006829Severe muscular hypotonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0000297Facial hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0012389Appendicular hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0031139Frog-leg posture1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0001290Generalized hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0008947Infantile muscular hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0008936Muscular hypotonia of the trunk1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0001319Neonatal hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0030190Oral motor hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0006829Severe muscular hypotonia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0000297Facial hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0012389Appendicular hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0031139Frog-leg posture1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0001290Generalized hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0008947Infantile muscular hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0008936Muscular hypotonia of the trunk1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0001319Neonatal hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0030190Oral motor hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0006829Severe muscular hypotonia1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0000297Facial hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0012389Appendicular hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0031139Frog-leg posture1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0001290Generalized hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0008947Infantile muscular hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0008936Muscular hypotonia of the trunk1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0001319Neonatal hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0030190Oral motor hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0006829Severe muscular hypotonia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0000297Facial hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0012389Appendicular hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0031139Frog-leg posture1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0001290Generalized hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0008947Infantile muscular hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0008936Muscular hypotonia of the trunk1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0001319Neonatal hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0030190Oral motor hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0006829Severe muscular hypotonia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0000297Facial hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0012389Appendicular hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0031139Frog-leg posture1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0001290Generalized hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0008947Infantile muscular hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0008936Muscular hypotonia of the trunk1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0001319Neonatal hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0030190Oral motor hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0006829Severe muscular hypotonia1NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0000297Facial hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0012389Appendicular hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0031139Frog-leg posture1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0001290Generalized hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0008947Infantile muscular hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0008936Muscular hypotonia of the trunk1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0001319Neonatal hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0030190Oral motor hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0006829Severe muscular hypotonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0000297Facial hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0012389Appendicular hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0031139Frog-leg posture1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0001290Generalized hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0008947Infantile muscular hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0008936Muscular hypotonia of the trunk1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0001319Neonatal hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0030190Oral motor hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0006829Severe muscular hypotonia1NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0000297Facial hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0012389Appendicular hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0031139Frog-leg posture1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0001290Generalized hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0008947Infantile muscular hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0008936Muscular hypotonia of the trunk1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0001319Neonatal hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0030190Oral motor hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0006829Severe muscular hypotonia1NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0000297Facial hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0012389Appendicular hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0031139Frog-leg posture1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0001290Generalized hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0008947Infantile muscular hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0008936Muscular hypotonia of the trunk1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0001319Neonatal hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0030190Oral motor hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0006829Severe muscular hypotonia1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0000297Facial hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0012389Appendicular hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0031139Frog-leg posture1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0001290Generalized hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0008947Infantile muscular hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0008936Muscular hypotonia of the trunk1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0001319Neonatal hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0030190Oral motor hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0006829Severe muscular hypotonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0000297Facial hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0012389Appendicular hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0031139Frog-leg posture1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0001290Generalized hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0008947Infantile muscular hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0008936Muscular hypotonia of the trunk1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0001319Neonatal hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0030190Oral motor hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0006829Severe muscular hypotonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0000297Facial hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0012389Appendicular hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0031139Frog-leg posture1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0001290Generalized hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0008947Infantile muscular hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0008936Muscular hypotonia of the trunk1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0001319Neonatal hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0030190Oral motor hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0006829Severe muscular hypotonia1NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0000297Facial hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0012389Appendicular hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0031139Frog-leg posture1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0001290Generalized hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0008947Infantile muscular hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0008936Muscular hypotonia of the trunk1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0001319Neonatal hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0030190Oral motor hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0006829Severe muscular hypotonia1NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0000297Facial hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0012389Appendicular hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0031139Frog-leg posture1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0001290Generalized hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0008947Infantile muscular hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0008936Muscular hypotonia of the trunk1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0001319Neonatal hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0030190Oral motor hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0006829Severe muscular hypotonia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0000297Facial hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0012389Appendicular hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0031139Frog-leg posture1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0001290Generalized hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0008947Infantile muscular hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0008936Muscular hypotonia of the trunk1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0001319Neonatal hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0030190Oral motor hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0006829Severe muscular hypotonia1NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0000297Facial hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0012389Appendicular hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0031139Frog-leg posture1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0001290Generalized hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0008947Infantile muscular hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0008936Muscular hypotonia of the trunk1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0001319Neonatal hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0030190Oral motor hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0006829Severe muscular hypotonia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0000297Facial hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0012389Appendicular hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0031139Frog-leg posture1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0001290Generalized hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0008947Infantile muscular hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0008936Muscular hypotonia of the trunk1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0001319Neonatal hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0030190Oral motor hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0006829Severe muscular hypotonia1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0000297Facial hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0012389Appendicular hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0031139Frog-leg posture1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0001290Generalized hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0008947Infantile muscular hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0008936Muscular hypotonia of the trunk1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0001319Neonatal hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0030190Oral motor hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0006829Severe muscular hypotonia1OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0000297Facial hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0012389Appendicular hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0031139Frog-leg posture1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0001290Generalized hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0008947Infantile muscular hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0008936Muscular hypotonia of the trunk1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0001319Neonatal hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0030190Oral motor hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0006829Severe muscular hypotonia1OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0000297Facial hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0012389Appendicular hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0031139Frog-leg posture1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0001290Generalized hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0008947Infantile muscular hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0008936Muscular hypotonia of the trunk1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0001319Neonatal hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0030190Oral motor hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0006829Severe muscular hypotonia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0000297Facial hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0012389Appendicular hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0031139Frog-leg posture1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0001290Generalized hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0008947Infantile muscular hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0008936Muscular hypotonia of the trunk1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0001319Neonatal hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0030190Oral motor hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0006829Severe muscular hypotonia1ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0000297Facial hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0012389Appendicular hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0031139Frog-leg posture1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0001290Generalized hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0008947Infantile muscular hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0008936Muscular hypotonia of the trunk1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0001319Neonatal hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0030190Oral motor hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0006829Severe muscular hypotonia1P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0000297Facial hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0012389Appendicular hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0031139Frog-leg posture1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0001290Generalized hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0008947Infantile muscular hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0001319Neonatal hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0030190Oral motor hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0006829Severe muscular hypotonia1PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0000297Facial hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0012389Appendicular hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0031139Frog-leg posture1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0001290Generalized hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0008947Infantile muscular hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0001319Neonatal hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0030190Oral motor hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0006829Severe muscular hypotonia1PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0000297Facial hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0012389Appendicular hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0031139Frog-leg posture1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0001290Generalized hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0008947Infantile muscular hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0001319Neonatal hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0030190Oral motor hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0006829Severe muscular hypotonia1PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0000297Facial hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0012389Appendicular hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0031139Frog-leg posture1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0001290Generalized hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0008947Infantile muscular hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0001319Neonatal hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0030190Oral motor hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0006829Severe muscular hypotonia1PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0000297Facial hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0012389Appendicular hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0031139Frog-leg posture1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0001290Generalized hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0008947Infantile muscular hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0001319Neonatal hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0030190Oral motor hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0006829Severe muscular hypotonia1PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0000297Facial hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0012389Appendicular hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0031139Frog-leg posture1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0001290Generalized hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0008947Infantile muscular hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0001319Neonatal hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0030190Oral motor hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0006829Severe muscular hypotonia1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0000297Facial hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0012389Appendicular hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0031139Frog-leg posture1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0001290Generalized hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0008947Infantile muscular hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0008936Muscular hypotonia of the trunk1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0001319Neonatal hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0030190Oral motor hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0006829Severe muscular hypotonia1PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0000297Facial hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0012389Appendicular hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0031139Frog-leg posture1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0001290Generalized hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0008947Infantile muscular hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0008936Muscular hypotonia of the trunk1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0001319Neonatal hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0030190Oral motor hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0006829Severe muscular hypotonia1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0000297Facial hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0012389Appendicular hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0031139Frog-leg posture1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0001290Generalized hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0008947Infantile muscular hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0008936Muscular hypotonia of the trunk1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0001319Neonatal hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0030190Oral motor hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0006829Severe muscular hypotonia1PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0000297Facial hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0012389Appendicular hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0031139Frog-leg posture1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0001290Generalized hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0008947Infantile muscular hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0008936Muscular hypotonia of the trunk1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0001319Neonatal hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0030190Oral motor hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0006829Severe muscular hypotonia1PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0000297Facial hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0012389Appendicular hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0031139Frog-leg posture1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0001290Generalized hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0008947Infantile muscular hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0008936Muscular hypotonia of the trunk1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0001319Neonatal hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0030190Oral motor hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0006829Severe muscular hypotonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0000297Facial hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0012389Appendicular hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0031139Frog-leg posture1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0001290Generalized hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0008947Infantile muscular hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0008936Muscular hypotonia of the trunk1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0001319Neonatal hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0030190Oral motor hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0006829Severe muscular hypotonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0000297Facial hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0012389Appendicular hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0031139Frog-leg posture1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0001290Generalized hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0008947Infantile muscular hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0008936Muscular hypotonia of the trunk1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0001319Neonatal hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0030190Oral motor hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0006829Severe muscular hypotonia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0000297Facial hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0012389Appendicular hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0031139Frog-leg posture1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0001290Generalized hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0008947Infantile muscular hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0008936Muscular hypotonia of the trunk1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0001319Neonatal hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0030190Oral motor hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0006829Severe muscular hypotonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0000297Facial hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0012389Appendicular hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0031139Frog-leg posture1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0001290Generalized hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0008947Infantile muscular hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0008936Muscular hypotonia of the trunk1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0001319Neonatal hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0030190Oral motor hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0006829Severe muscular hypotonia1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0000297Facial hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0012389Appendicular hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0031139Frog-leg posture1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0001290Generalized hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0008947Infantile muscular hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0001319Neonatal hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0030190Oral motor hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0006829Severe muscular hypotonia1PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0000297Facial hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0012389Appendicular hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0031139Frog-leg posture1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0001290Generalized hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0008947Infantile muscular hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0001319Neonatal hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0030190Oral motor hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0006829Severe muscular hypotonia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0000297Facial hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0012389Appendicular hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0031139Frog-leg posture1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0001290Generalized hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0008947Infantile muscular hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0001319Neonatal hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0030190Oral motor hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0006829Severe muscular hypotonia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0000297Facial hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0012389Appendicular hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0031139Frog-leg posture1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0001290Generalized hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0008947Infantile muscular hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0001319Neonatal hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0030190Oral motor hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0006829Severe muscular hypotonia1PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0000297Facial hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0012389Appendicular hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0031139Frog-leg posture1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0001290Generalized hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0008947Infantile muscular hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0001319Neonatal hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0030190Oral motor hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0006829Severe muscular hypotonia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0000297Facial hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0012389Appendicular hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0031139Frog-leg posture1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0001290Generalized hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0008947Infantile muscular hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0001319Neonatal hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0030190Oral motor hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0006829Severe muscular hypotonia1PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0000297Facial hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0012389Appendicular hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0031139Frog-leg posture1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0001290Generalized hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0008947Infantile muscular hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0001319Neonatal hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0030190Oral motor hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0006829Severe muscular hypotonia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0000297Facial hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0012389Appendicular hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0031139Frog-leg posture1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0001290Generalized hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0008947Infantile muscular hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0001319Neonatal hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0030190Oral motor hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0006829Severe muscular hypotonia1PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0000297Facial hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0012389Appendicular hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0031139Frog-leg posture1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0001290Generalized hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0008947Infantile muscular hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0001319Neonatal hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0030190Oral motor hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0006829Severe muscular hypotonia1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0000297Facial hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0012389Appendicular hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0031139Frog-leg posture1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0001290Generalized hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0008947Infantile muscular hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0001319Neonatal hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0030190Oral motor hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0006829Severe muscular hypotonia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0000297Facial hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0012389Appendicular hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0031139Frog-leg posture1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0001290Generalized hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0008947Infantile muscular hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0001319Neonatal hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0030190Oral motor hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0006829Severe muscular hypotonia1PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0000297Facial hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0012389Appendicular hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0031139Frog-leg posture1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0001290Generalized hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0008947Infantile muscular hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0001319Neonatal hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0030190Oral motor hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0006829Severe muscular hypotonia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0000297Facial hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0012389Appendicular hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0031139Frog-leg posture1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0001290Generalized hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0008947Infantile muscular hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0001319Neonatal hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0030190Oral motor hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0006829Severe muscular hypotonia1PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0000297Facial hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0012389Appendicular hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0031139Frog-leg posture1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0001290Generalized hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0008947Infantile muscular hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0001319Neonatal hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0030190Oral motor hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0006829Severe muscular hypotonia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0000297Facial hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0012389Appendicular hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0031139Frog-leg posture1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0001290Generalized hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0008947Infantile muscular hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0001319Neonatal hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0030190Oral motor hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0006829Severe muscular hypotonia1PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0000297Facial hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0012389Appendicular hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0031139Frog-leg posture1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0001290Generalized hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0008947Infantile muscular hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0001319Neonatal hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0030190Oral motor hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0006829Severe muscular hypotonia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0000297Facial hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0012389Appendicular hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0031139Frog-leg posture1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0001290Generalized hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0008947Infantile muscular hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0001319Neonatal hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0030190Oral motor hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0006829Severe muscular hypotonia1PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0000297Facial hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0012389Appendicular hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0031139Frog-leg posture1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0001290Generalized hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0008947Infantile muscular hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0001319Neonatal hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0030190Oral motor hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0006829Severe muscular hypotonia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0000297Facial hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0012389Appendicular hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0031139Frog-leg posture1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0001290Generalized hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0008947Infantile muscular hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0001319Neonatal hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0030190Oral motor hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0006829Severe muscular hypotonia1PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0000297Facial hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0012389Appendicular hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0031139Frog-leg posture1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0001290Generalized hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0008947Infantile muscular hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0001319Neonatal hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0030190Oral motor hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0006829Severe muscular hypotonia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0000297Facial hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0012389Appendicular hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0031139Frog-leg posture1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0001290Generalized hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0008947Infantile muscular hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0001319Neonatal hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0030190Oral motor hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0006829Severe muscular hypotonia1PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0000297Facial hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0012389Appendicular hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0031139Frog-leg posture1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0001290Generalized hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0008947Infantile muscular hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0001319Neonatal hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0030190Oral motor hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0006829Severe muscular hypotonia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0000297Facial hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0012389Appendicular hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0031139Frog-leg posture1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0001290Generalized hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0008947Infantile muscular hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0001319Neonatal hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0030190Oral motor hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0006829Severe muscular hypotonia1PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0000297Facial hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0012389Appendicular hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0031139Frog-leg posture1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0001290Generalized hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0008947Infantile muscular hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0001319Neonatal hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0030190Oral motor hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0006829Severe muscular hypotonia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0000297Facial hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0012389Appendicular hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0031139Frog-leg posture1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0001290Generalized hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0008947Infantile muscular hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0001319Neonatal hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0030190Oral motor hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0006829Severe muscular hypotonia1PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0000297Facial hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0012389Appendicular hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0031139Frog-leg posture1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0001290Generalized hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0008947Infantile muscular hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0001319Neonatal hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0030190Oral motor hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0006829Severe muscular hypotonia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0000297Facial hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0012389Appendicular hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0031139Frog-leg posture1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0001290Generalized hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0008947Infantile muscular hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0001319Neonatal hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0030190Oral motor hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0006829Severe muscular hypotonia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0000297Facial hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0012389Appendicular hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0031139Frog-leg posture1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0001290Generalized hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0008947Infantile muscular hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0001319Neonatal hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0030190Oral motor hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0006829Severe muscular hypotonia1PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0000297Facial hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0012389Appendicular hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0031139Frog-leg posture1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0001290Generalized hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0008947Infantile muscular hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0001319Neonatal hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0030190Oral motor hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0006829Severe muscular hypotonia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0000297Facial hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0012389Appendicular hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0031139Frog-leg posture1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0001290Generalized hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0008947Infantile muscular hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0008936Muscular hypotonia of the trunk1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0001319Neonatal hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0030190Oral motor hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0006829Severe muscular hypotonia1PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0000297Facial hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0012389Appendicular hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0031139Frog-leg posture1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0001290Generalized hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0008947Infantile muscular hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0008936Muscular hypotonia of the trunk1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0001319Neonatal hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0030190Oral motor hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0006829Severe muscular hypotonia1PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0000297Facial hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0012389Appendicular hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0031139Frog-leg posture1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0001290Generalized hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0008947Infantile muscular hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0008936Muscular hypotonia of the trunk1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0001319Neonatal hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0030190Oral motor hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0006829Severe muscular hypotonia1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0000297Facial hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0012389Appendicular hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0031139Frog-leg posture1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0001290Generalized hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0008947Infantile muscular hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0008936Muscular hypotonia of the trunk1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0001319Neonatal hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0030190Oral motor hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0006829Severe muscular hypotonia1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0000297Facial hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0012389Appendicular hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0031139Frog-leg posture1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0001290Generalized hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0008947Infantile muscular hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0008936Muscular hypotonia of the trunk1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0001319Neonatal hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0030190Oral motor hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0006829Severe muscular hypotonia1PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0000297Facial hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0012389Appendicular hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0031139Frog-leg posture1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0001290Generalized hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0008947Infantile muscular hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0008936Muscular hypotonia of the trunk1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0001319Neonatal hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0030190Oral motor hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0006829Severe muscular hypotonia1PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0000297Facial hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0012389Appendicular hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0031139Frog-leg posture1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0001290Generalized hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0008947Infantile muscular hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0001319Neonatal hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0030190Oral motor hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0006829Severe muscular hypotonia1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0000297Facial hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0012389Appendicular hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0031139Frog-leg posture1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0001290Generalized hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0008947Infantile muscular hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0001319Neonatal hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0030190Oral motor hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0006829Severe muscular hypotonia1PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0000297Facial hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0012389Appendicular hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0031139Frog-leg posture1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0001290Generalized hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0008947Infantile muscular hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0001319Neonatal hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0030190Oral motor hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0006829Severe muscular hypotonia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0000297Facial hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0012389Appendicular hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0031139Frog-leg posture1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0001290Generalized hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0008947Infantile muscular hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0001319Neonatal hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0030190Oral motor hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0006829Severe muscular hypotonia1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0000297Facial hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0012389Appendicular hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0031139Frog-leg posture1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0001290Generalized hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0008947Infantile muscular hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0001319Neonatal hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0030190Oral motor hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0006829Severe muscular hypotonia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0000297Facial hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0012389Appendicular hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0031139Frog-leg posture1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0001290Generalized hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0008947Infantile muscular hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0001319Neonatal hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0030190Oral motor hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0006829Severe muscular hypotonia1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0000297Facial hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0012389Appendicular hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0031139Frog-leg posture1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0001290Generalized hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0008947Infantile muscular hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0001319Neonatal hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0030190Oral motor hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0006829Severe muscular hypotonia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0000297Facial hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0012389Appendicular hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0031139Frog-leg posture1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0001290Generalized hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0008947Infantile muscular hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0001319Neonatal hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0030190Oral motor hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0006829Severe muscular hypotonia1PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0000297Facial hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0012389Appendicular hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0031139Frog-leg posture1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0001290Generalized hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0008947Infantile muscular hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0001319Neonatal hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0030190Oral motor hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0006829Severe muscular hypotonia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0000297Facial hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0012389Appendicular hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0031139Frog-leg posture1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0001290Generalized hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0008947Infantile muscular hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0001319Neonatal hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0030190Oral motor hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0006829Severe muscular hypotonia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0000297Facial hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0012389Appendicular hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0031139Frog-leg posture1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0001290Generalized hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0008947Infantile muscular hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0001319Neonatal hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0030190Oral motor hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0006829Severe muscular hypotonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0000297Facial hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0012389Appendicular hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0031139Frog-leg posture1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0001290Generalized hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0008947Infantile muscular hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0001319Neonatal hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0030190Oral motor hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0006829Severe muscular hypotonia1PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0000297Facial hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0012389Appendicular hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0031139Frog-leg posture1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0001290Generalized hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0008947Infantile muscular hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0001319Neonatal hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0030190Oral motor hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0006829Severe muscular hypotonia1PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0000297Facial hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0012389Appendicular hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0031139Frog-leg posture1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0001290Generalized hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0008947Infantile muscular hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0008936Muscular hypotonia of the trunk1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0001319Neonatal hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0030190Oral motor hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0006829Severe muscular hypotonia1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0000297Facial hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0012389Appendicular hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0031139Frog-leg posture1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0001290Generalized hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0008947Infantile muscular hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0008936Muscular hypotonia of the trunk1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0001319Neonatal hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0030190Oral motor hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0006829Severe muscular hypotonia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0000297Facial hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0012389Appendicular hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0031139Frog-leg posture1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0001290Generalized hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0008947Infantile muscular hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0008936Muscular hypotonia of the trunk1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0001319Neonatal hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0030190Oral motor hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0006829Severe muscular hypotonia1PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0000297Facial hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0012389Appendicular hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0031139Frog-leg posture1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0001290Generalized hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0008947Infantile muscular hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0008936Muscular hypotonia of the trunk1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0001319Neonatal hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0030190Oral motor hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0006829Severe muscular hypotonia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0000297Facial hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0012389Appendicular hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0031139Frog-leg posture1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0001290Generalized hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0008947Infantile muscular hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0008936Muscular hypotonia of the trunk1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0001319Neonatal hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0030190Oral motor hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0006829Severe muscular hypotonia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0000297Facial hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0012389Appendicular hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0031139Frog-leg posture1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0001290Generalized hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0008947Infantile muscular hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0008936Muscular hypotonia of the trunk1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0001319Neonatal hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0030190Oral motor hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0006829Severe muscular hypotonia1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0000297Facial hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0012389Appendicular hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0031139Frog-leg posture1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0001290Generalized hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0008947Infantile muscular hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0008936Muscular hypotonia of the trunk1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0001319Neonatal hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0030190Oral motor hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0006829Severe muscular hypotonia1PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0000297Facial hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0012389Appendicular hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0031139Frog-leg posture1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0001290Generalized hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0008947Infantile muscular hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0008936Muscular hypotonia of the trunk1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0001319Neonatal hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0030190Oral motor hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0006829Severe muscular hypotonia1POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0000297Facial hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0012389Appendicular hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0031139Frog-leg posture1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0001290Generalized hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0008947Infantile muscular hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0008936Muscular hypotonia of the trunk1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0001319Neonatal hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0030190Oral motor hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0006829Severe muscular hypotonia1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0000297Facial hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0012389Appendicular hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0031139Frog-leg posture1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0001290Generalized hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0008947Infantile muscular hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0001319Neonatal hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0030190Oral motor hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0006829Severe muscular hypotonia1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0000297Facial hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0012389Appendicular hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0031139Frog-leg posture1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0001290Generalized hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0008947Infantile muscular hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0001319Neonatal hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0030190Oral motor hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0006829Severe muscular hypotonia1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0000297Facial hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0012389Appendicular hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0031139Frog-leg posture1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0001290Generalized hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0008947Infantile muscular hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0001319Neonatal hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0030190Oral motor hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0006829Severe muscular hypotonia1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0000297Facial hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0012389Appendicular hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0031139Frog-leg posture1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0001290Generalized hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0008947Infantile muscular hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0001319Neonatal hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0030190Oral motor hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0006829Severe muscular hypotonia1POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0000297Facial hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0012389Appendicular hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0031139Frog-leg posture1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0001290Generalized hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0008947Infantile muscular hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0001319Neonatal hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0030190Oral motor hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0006829Severe muscular hypotonia1POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0000297Facial hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0012389Appendicular hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0031139Frog-leg posture1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0001290Generalized hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0008947Infantile muscular hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0001319Neonatal hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0030190Oral motor hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0006829Severe muscular hypotonia1POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0000297Facial hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0012389Appendicular hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0031139Frog-leg posture1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0001290Generalized hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0008947Infantile muscular hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0001319Neonatal hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0030190Oral motor hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0006829Severe muscular hypotonia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0000297Facial hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0012389Appendicular hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0031139Frog-leg posture1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0001290Generalized hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0008947Infantile muscular hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0001319Neonatal hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0030190Oral motor hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0006829Severe muscular hypotonia1POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0000297Facial hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0012389Appendicular hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0031139Frog-leg posture1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0001290Generalized hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0008947Infantile muscular hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0001319Neonatal hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0030190Oral motor hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0006829Severe muscular hypotonia1POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0000297Facial hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0012389Appendicular hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0031139Frog-leg posture1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0001290Generalized hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0008947Infantile muscular hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0008936Muscular hypotonia of the trunk1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0001319Neonatal hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0030190Oral motor hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0006829Severe muscular hypotonia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0000297Facial hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0012389Appendicular hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0031139Frog-leg posture1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0001290Generalized hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0008947Infantile muscular hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0008936Muscular hypotonia of the trunk1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0001319Neonatal hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0030190Oral motor hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0006829Severe muscular hypotonia1POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0000297Facial hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0012389Appendicular hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0031139Frog-leg posture1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0001290Generalized hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0008947Infantile muscular hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0008936Muscular hypotonia of the trunk1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0001319Neonatal hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0030190Oral motor hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0006829Severe muscular hypotonia1POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0000297Facial hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0012389Appendicular hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0031139Frog-leg posture1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0001290Generalized hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0008947Infantile muscular hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0008936Muscular hypotonia of the trunk1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0001319Neonatal hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0030190Oral motor hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0006829Severe muscular hypotonia1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0000297Facial hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0012389Appendicular hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0031139Frog-leg posture1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0001290Generalized hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0008947Infantile muscular hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0008936Muscular hypotonia of the trunk1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0001319Neonatal hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0030190Oral motor hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0006829Severe muscular hypotonia1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0000297Facial hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0012389Appendicular hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0031139Frog-leg posture1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0001290Generalized hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0008947Infantile muscular hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0008936Muscular hypotonia of the trunk1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0001319Neonatal hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0030190Oral motor hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0006829Severe muscular hypotonia1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0000297Facial hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0012389Appendicular hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0031139Frog-leg posture1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0001290Generalized hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0008947Infantile muscular hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0001319Neonatal hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0030190Oral motor hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0006829Severe muscular hypotonia1PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0000297Facial hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0012389Appendicular hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0031139Frog-leg posture1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0001290Generalized hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0008947Infantile muscular hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0001319Neonatal hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0030190Oral motor hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0006829Severe muscular hypotonia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0000297Facial hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0012389Appendicular hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0031139Frog-leg posture1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0001290Generalized hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0008947Infantile muscular hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0008936Muscular hypotonia of the trunk1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0001319Neonatal hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0030190Oral motor hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0006829Severe muscular hypotonia1PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0000297Facial hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0012389Appendicular hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0031139Frog-leg posture1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0001290Generalized hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0008947Infantile muscular hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0008936Muscular hypotonia of the trunk1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0001319Neonatal hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0030190Oral motor hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0006829Severe muscular hypotonia1PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0000297Facial hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0012389Appendicular hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0031139Frog-leg posture1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0001290Generalized hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0008947Infantile muscular hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0001319Neonatal hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0030190Oral motor hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0006829Severe muscular hypotonia1PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0000297Facial hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0012389Appendicular hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0031139Frog-leg posture1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0001290Generalized hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0008947Infantile muscular hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0008936Muscular hypotonia of the trunk1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0001319Neonatal hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0030190Oral motor hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0006829Severe muscular hypotonia1PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0000297Facial hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0012389Appendicular hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0031139Frog-leg posture1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0001290Generalized hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0008947Infantile muscular hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0001319Neonatal hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0030190Oral motor hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0006829Severe muscular hypotonia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0000297Facial hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0012389Appendicular hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0031139Frog-leg posture1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0001290Generalized hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0008947Infantile muscular hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0001319Neonatal hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0030190Oral motor hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0006829Severe muscular hypotonia1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0000297Facial hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0012389Appendicular hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0031139Frog-leg posture1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0001290Generalized hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0008947Infantile muscular hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0001319Neonatal hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0030190Oral motor hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0006829Severe muscular hypotonia1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0000297Facial hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0012389Appendicular hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0031139Frog-leg posture1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0001290Generalized hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0008947Infantile muscular hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0008936Muscular hypotonia of the trunk1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0001319Neonatal hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0030190Oral motor hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0006829Severe muscular hypotonia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0000297Facial hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0012389Appendicular hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0031139Frog-leg posture1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0001290Generalized hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0008947Infantile muscular hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0008936Muscular hypotonia of the trunk1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0001319Neonatal hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0030190Oral motor hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0006829Severe muscular hypotonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0000297Facial hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0012389Appendicular hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0031139Frog-leg posture1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0001290Generalized hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0008947Infantile muscular hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0008936Muscular hypotonia of the trunk1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0001319Neonatal hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0030190Oral motor hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0006829Severe muscular hypotonia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0000297Facial hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0012389Appendicular hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0031139Frog-leg posture1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0001290Generalized hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0008947Infantile muscular hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0001319Neonatal hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0030190Oral motor hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0006829Severe muscular hypotonia1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0000297Facial hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0012389Appendicular hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0031139Frog-leg posture1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0001290Generalized hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0008947Infantile muscular hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0001319Neonatal hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0030190Oral motor hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0006829Severe muscular hypotonia1PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0000297Facial hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0012389Appendicular hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0031139Frog-leg posture1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0001290Generalized hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0008947Infantile muscular hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0001319Neonatal hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0030190Oral motor hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0006829Severe muscular hypotonia1PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0000297Facial hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0012389Appendicular hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0031139Frog-leg posture1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0001290Generalized hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0008947Infantile muscular hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0001319Neonatal hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0030190Oral motor hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0006829Severe muscular hypotonia1PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0000297Facial hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0012389Appendicular hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0031139Frog-leg posture1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0001290Generalized hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0008947Infantile muscular hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0008936Muscular hypotonia of the trunk1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0001319Neonatal hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0030190Oral motor hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0006829Severe muscular hypotonia1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0000297Facial hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0012389Appendicular hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0031139Frog-leg posture1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0001290Generalized hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0008947Infantile muscular hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0008936Muscular hypotonia of the trunk1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0001319Neonatal hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0030190Oral motor hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0006829Severe muscular hypotonia1PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0000297Facial hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0012389Appendicular hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0031139Frog-leg posture1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0001290Generalized hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0008947Infantile muscular hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0008936Muscular hypotonia of the trunk1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0001319Neonatal hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0030190Oral motor hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0006829Severe muscular hypotonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0000297Facial hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0012389Appendicular hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0031139Frog-leg posture1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0001290Generalized hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0008947Infantile muscular hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0001319Neonatal hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0030190Oral motor hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0006829Severe muscular hypotonia1RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0000297Facial hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0012389Appendicular hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0031139Frog-leg posture1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0001290Generalized hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0008947Infantile muscular hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0001319Neonatal hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0030190Oral motor hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0006829Severe muscular hypotonia1RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0000297Facial hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0012389Appendicular hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0031139Frog-leg posture1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0001290Generalized hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0008947Infantile muscular hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0001319Neonatal hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0030190Oral motor hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0006829Severe muscular hypotonia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0000297Facial hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0012389Appendicular hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0031139Frog-leg posture1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0001290Generalized hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0008947Infantile muscular hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0001319Neonatal hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0030190Oral motor hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0006829Severe muscular hypotonia1RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0000297Facial hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0012389Appendicular hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0031139Frog-leg posture1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0001290Generalized hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0008947Infantile muscular hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0001319Neonatal hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0030190Oral motor hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0006829Severe muscular hypotonia1RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0000297Facial hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0012389Appendicular hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0031139Frog-leg posture1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0001290Generalized hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0008947Infantile muscular hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0001319Neonatal hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0030190Oral motor hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0006829Severe muscular hypotonia1RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0000297Facial hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0012389Appendicular hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0031139Frog-leg posture1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0001290Generalized hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0008947Infantile muscular hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0001319Neonatal hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0030190Oral motor hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0006829Severe muscular hypotonia1RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0000297Facial hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0012389Appendicular hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0031139Frog-leg posture1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0001290Generalized hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0008947Infantile muscular hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0001319Neonatal hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0030190Oral motor hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0006829Severe muscular hypotonia1RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0000297Facial hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0012389Appendicular hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0031139Frog-leg posture1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0001290Generalized hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0008947Infantile muscular hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0001319Neonatal hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0030190Oral motor hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0006829Severe muscular hypotonia1RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0000297Facial hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0012389Appendicular hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0031139Frog-leg posture1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0001290Generalized hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0008947Infantile muscular hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0008936Muscular hypotonia of the trunk1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0001319Neonatal hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0030190Oral motor hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0006829Severe muscular hypotonia1RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0000297Facial hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0012389Appendicular hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0031139Frog-leg posture1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0001290Generalized hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0008947Infantile muscular hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0008936Muscular hypotonia of the trunk1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0001319Neonatal hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0030190Oral motor hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0006829Severe muscular hypotonia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0000297Facial hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0012389Appendicular hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0031139Frog-leg posture1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0001290Generalized hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0008947Infantile muscular hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0008936Muscular hypotonia of the trunk1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0001319Neonatal hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0030190Oral motor hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0006829Severe muscular hypotonia1RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0000297Facial hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0012389Appendicular hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0031139Frog-leg posture1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0001290Generalized hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0008947Infantile muscular hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0008936Muscular hypotonia of the trunk1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0001319Neonatal hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0030190Oral motor hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0006829Severe muscular hypotonia1RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0000297Facial hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0012389Appendicular hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0031139Frog-leg posture1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0001290Generalized hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0008947Infantile muscular hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0008936Muscular hypotonia of the trunk1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0001319Neonatal hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0030190Oral motor hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0006829Severe muscular hypotonia1RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0000297Facial hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0012389Appendicular hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0031139Frog-leg posture1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0001290Generalized hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0008947Infantile muscular hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0008936Muscular hypotonia of the trunk1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0001319Neonatal hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0030190Oral motor hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0006829Severe muscular hypotonia1RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0000297Facial hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0012389Appendicular hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0031139Frog-leg posture1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0001290Generalized hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0008947Infantile muscular hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0008936Muscular hypotonia of the trunk1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0001319Neonatal hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0030190Oral motor hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0006829Severe muscular hypotonia1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0000297Facial hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0012389Appendicular hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0031139Frog-leg posture1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0001290Generalized hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0008947Infantile muscular hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0008936Muscular hypotonia of the trunk1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0001319Neonatal hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0030190Oral motor hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0006829Severe muscular hypotonia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0000297Facial hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0012389Appendicular hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0031139Frog-leg posture1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0001290Generalized hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0008947Infantile muscular hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0008936Muscular hypotonia of the trunk1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0001319Neonatal hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0030190Oral motor hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0006829Severe muscular hypotonia1REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0000297Facial hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0012389Appendicular hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0031139Frog-leg posture1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0001290Generalized hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0008947Infantile muscular hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0008936Muscular hypotonia of the trunk1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0001319Neonatal hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0030190Oral motor hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0006829Severe muscular hypotonia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0000297Facial hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0012389Appendicular hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0031139Frog-leg posture1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0001290Generalized hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0008947Infantile muscular hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0008936Muscular hypotonia of the trunk1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0001319Neonatal hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0030190Oral motor hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0006829Severe muscular hypotonia1RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0000297Facial hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0012389Appendicular hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0031139Frog-leg posture1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0001290Generalized hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0008947Infantile muscular hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0008936Muscular hypotonia of the trunk1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0001319Neonatal hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0030190Oral motor hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0006829Severe muscular hypotonia1RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0000297Facial hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0012389Appendicular hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0031139Frog-leg posture1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0001290Generalized hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0008947Infantile muscular hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0008936Muscular hypotonia of the trunk1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0001319Neonatal hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0030190Oral motor hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0006829Severe muscular hypotonia1RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0000297Facial hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0012389Appendicular hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0031139Frog-leg posture1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0001290Generalized hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0008947Infantile muscular hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0008936Muscular hypotonia of the trunk1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0001319Neonatal hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0030190Oral motor hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0006829Severe muscular hypotonia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0000297Facial hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0012389Appendicular hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0031139Frog-leg posture1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0001290Generalized hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0008947Infantile muscular hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0008936Muscular hypotonia of the trunk1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0001319Neonatal hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0030190Oral motor hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0006829Severe muscular hypotonia1RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0000297Facial hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0012389Appendicular hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0031139Frog-leg posture1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0001290Generalized hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0008947Infantile muscular hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0001319Neonatal hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0030190Oral motor hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0006829Severe muscular hypotonia1RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0000297Facial hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0012389Appendicular hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0031139Frog-leg posture1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0001290Generalized hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0008947Infantile muscular hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0001319Neonatal hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0030190Oral motor hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0006829Severe muscular hypotonia1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0000297Facial hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0012389Appendicular hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0031139Frog-leg posture1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0001290Generalized hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0008947Infantile muscular hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0001319Neonatal hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0030190Oral motor hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0006829Severe muscular hypotonia1RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0000297Facial hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0012389Appendicular hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0031139Frog-leg posture1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0001290Generalized hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0008947Infantile muscular hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0001319Neonatal hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0030190Oral motor hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0006829Severe muscular hypotonia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0000297Facial hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0012389Appendicular hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0031139Frog-leg posture1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0001290Generalized hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0008947Infantile muscular hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0001319Neonatal hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0030190Oral motor hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0006829Severe muscular hypotonia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0000297Facial hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0012389Appendicular hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0031139Frog-leg posture1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0001290Generalized hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0008947Infantile muscular hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0001319Neonatal hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0030190Oral motor hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0006829Severe muscular hypotonia1RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0000297Facial hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0012389Appendicular hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0031139Frog-leg posture1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0001290Generalized hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0008947Infantile muscular hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0001319Neonatal hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0030190Oral motor hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0006829Severe muscular hypotonia1RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0000297Facial hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0012389Appendicular hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0031139Frog-leg posture1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0001290Generalized hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0008947Infantile muscular hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0001319Neonatal hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0030190Oral motor hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0006829Severe muscular hypotonia1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0000297Facial hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0012389Appendicular hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0031139Frog-leg posture1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0001290Generalized hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0008947Infantile muscular hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0008936Muscular hypotonia of the trunk1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0001319Neonatal hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0030190Oral motor hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0006829Severe muscular hypotonia1RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0000297Facial hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0012389Appendicular hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0031139Frog-leg posture1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0001290Generalized hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0008947Infantile muscular hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0008936Muscular hypotonia of the trunk1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0001319Neonatal hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0030190Oral motor hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0006829Severe muscular hypotonia1RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0000297Facial hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0012389Appendicular hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0031139Frog-leg posture1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0001290Generalized hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0008947Infantile muscular hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0008936Muscular hypotonia of the trunk1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0001319Neonatal hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0030190Oral motor hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0006829Severe muscular hypotonia1RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0000297Facial hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0012389Appendicular hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0031139Frog-leg posture1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0001290Generalized hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0008947Infantile muscular hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0008936Muscular hypotonia of the trunk1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0001319Neonatal hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0030190Oral motor hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0006829Severe muscular hypotonia1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0000297Facial hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0012389Appendicular hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0031139Frog-leg posture1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0001290Generalized hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0008947Infantile muscular hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0008936Muscular hypotonia of the trunk1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0001319Neonatal hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0030190Oral motor hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0006829Severe muscular hypotonia1RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0000297Facial hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0012389Appendicular hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0031139Frog-leg posture1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0001290Generalized hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0008947Infantile muscular hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0008936Muscular hypotonia of the trunk1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0001319Neonatal hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0030190Oral motor hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0006829Severe muscular hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0000297Facial hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0012389Appendicular hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0031139Frog-leg posture1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0001290Generalized hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0008947Infantile muscular hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0008936Muscular hypotonia of the trunk1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0001319Neonatal hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0030190Oral motor hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0006829Severe muscular hypotonia1SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0000297Facial hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0012389Appendicular hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0031139Frog-leg posture1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0001290Generalized hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0008947Infantile muscular hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0008936Muscular hypotonia of the trunk1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0001319Neonatal hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0030190Oral motor hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0006829Severe muscular hypotonia1SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0000297Facial hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0012389Appendicular hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0031139Frog-leg posture1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0001290Generalized hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0008947Infantile muscular hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0001319Neonatal hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0030190Oral motor hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0006829Severe muscular hypotonia1SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0000297Facial hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0012389Appendicular hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0031139Frog-leg posture1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0001290Generalized hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0008947Infantile muscular hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0001319Neonatal hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0030190Oral motor hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0006829Severe muscular hypotonia1SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0000297Facial hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0012389Appendicular hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0031139Frog-leg posture1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0001290Generalized hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0008947Infantile muscular hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0001319Neonatal hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0030190Oral motor hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0006829Severe muscular hypotonia1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0000297Facial hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0012389Appendicular hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0031139Frog-leg posture1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0001290Generalized hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0008947Infantile muscular hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0001319Neonatal hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0030190Oral motor hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0006829Severe muscular hypotonia1SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0000297Facial hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0012389Appendicular hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0031139Frog-leg posture1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0001290Generalized hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0008947Infantile muscular hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0001319Neonatal hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0030190Oral motor hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0006829Severe muscular hypotonia1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0000297Facial hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0012389Appendicular hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0031139Frog-leg posture1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0001290Generalized hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0008947Infantile muscular hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0001319Neonatal hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0030190Oral motor hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0006829Severe muscular hypotonia1SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0000297Facial hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0012389Appendicular hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0031139Frog-leg posture1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0001290Generalized hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0008947Infantile muscular hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0001319Neonatal hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0030190Oral motor hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0006829Severe muscular hypotonia1SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0000297Facial hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0012389Appendicular hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0031139Frog-leg posture1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0001290Generalized hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0008947Infantile muscular hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0001319Neonatal hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0030190Oral motor hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0006829Severe muscular hypotonia1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0000297Facial hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0012389Appendicular hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0031139Frog-leg posture1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0001290Generalized hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0008947Infantile muscular hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0008936Muscular hypotonia of the trunk1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0001319Neonatal hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0030190Oral motor hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0006829Severe muscular hypotonia1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0000297Facial hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0012389Appendicular hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0031139Frog-leg posture1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0001290Generalized hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0008947Infantile muscular hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0008936Muscular hypotonia of the trunk1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0001319Neonatal hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0030190Oral motor hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0006829Severe muscular hypotonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0000297Facial hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0012389Appendicular hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0031139Frog-leg posture1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0001290Generalized hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0008947Infantile muscular hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0008936Muscular hypotonia of the trunk1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0001319Neonatal hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0030190Oral motor hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0006829Severe muscular hypotonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0000297Facial hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0012389Appendicular hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0031139Frog-leg posture1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0001290Generalized hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0008947Infantile muscular hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0008936Muscular hypotonia of the trunk1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0001319Neonatal hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0030190Oral motor hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0006829Severe muscular hypotonia1SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0000297Facial hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0012389Appendicular hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0031139Frog-leg posture1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0001290Generalized hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0008947Infantile muscular hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0008936Muscular hypotonia of the trunk1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0001319Neonatal hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0030190Oral motor hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0006829Severe muscular hypotonia1SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0000297Facial hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0012389Appendicular hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0031139Frog-leg posture1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0001290Generalized hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0008947Infantile muscular hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0008936Muscular hypotonia of the trunk1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0001319Neonatal hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0030190Oral motor hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0006829Severe muscular hypotonia1SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0000297Facial hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0012389Appendicular hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0031139Frog-leg posture1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0001290Generalized hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0008947Infantile muscular hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0008936Muscular hypotonia of the trunk1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0001319Neonatal hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0030190Oral motor hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0006829Severe muscular hypotonia1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0000297Facial hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0012389Appendicular hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0031139Frog-leg posture1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0001290Generalized hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0008947Infantile muscular hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0008936Muscular hypotonia of the trunk1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0001319Neonatal hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0030190Oral motor hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0006829Severe muscular hypotonia1SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0000297Facial hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0012389Appendicular hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0031139Frog-leg posture1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0001290Generalized hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0008947Infantile muscular hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0008936Muscular hypotonia of the trunk1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0001319Neonatal hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0030190Oral motor hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0006829Severe muscular hypotonia1SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0000297Facial hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0012389Appendicular hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0031139Frog-leg posture1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0001290Generalized hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0008947Infantile muscular hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0008936Muscular hypotonia of the trunk1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0001319Neonatal hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0030190Oral motor hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0006829Severe muscular hypotonia1SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0000297Facial hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0012389Appendicular hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0031139Frog-leg posture1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0001290Generalized hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0008947Infantile muscular hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0008936Muscular hypotonia of the trunk1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0001319Neonatal hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0030190Oral motor hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0006829Severe muscular hypotonia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0000297Facial hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0012389Appendicular hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0031139Frog-leg posture1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0001290Generalized hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0008947Infantile muscular hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0008936Muscular hypotonia of the trunk1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0001319Neonatal hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0030190Oral motor hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0006829Severe muscular hypotonia1SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0000297Facial hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0012389Appendicular hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0031139Frog-leg posture1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0001290Generalized hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0008947Infantile muscular hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0008936Muscular hypotonia of the trunk1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0001319Neonatal hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0030190Oral motor hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0006829Severe muscular hypotonia1SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0000297Facial hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0012389Appendicular hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0031139Frog-leg posture1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0001290Generalized hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0008947Infantile muscular hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0008936Muscular hypotonia of the trunk1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0001319Neonatal hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0030190Oral motor hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0006829Severe muscular hypotonia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0000297Facial hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0012389Appendicular hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0031139Frog-leg posture1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0001290Generalized hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0008947Infantile muscular hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0008936Muscular hypotonia of the trunk1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0001319Neonatal hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0030190Oral motor hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0006829Severe muscular hypotonia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0000297Facial hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0012389Appendicular hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0031139Frog-leg posture1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0001290Generalized hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0008947Infantile muscular hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0008936Muscular hypotonia of the trunk1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0001319Neonatal hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0030190Oral motor hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0006829Severe muscular hypotonia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0000297Facial hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0012389Appendicular hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0031139Frog-leg posture1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0001290Generalized hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0008947Infantile muscular hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0008936Muscular hypotonia of the trunk1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0001319Neonatal hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0030190Oral motor hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0006829Severe muscular hypotonia1SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0000297Facial hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0012389Appendicular hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0031139Frog-leg posture1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0001290Generalized hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0008947Infantile muscular hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0008936Muscular hypotonia of the trunk1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0001319Neonatal hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0030190Oral motor hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0006829Severe muscular hypotonia1SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0000297Facial hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0012389Appendicular hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0031139Frog-leg posture1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0001290Generalized hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0008947Infantile muscular hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0001319Neonatal hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0030190Oral motor hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0006829Severe muscular hypotonia1SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0000297Facial hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0012389Appendicular hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0031139Frog-leg posture1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0001290Generalized hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0008947Infantile muscular hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0001319Neonatal hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0030190Oral motor hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0006829Severe muscular hypotonia1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0000297Facial hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0012389Appendicular hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0031139Frog-leg posture1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0001290Generalized hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0008947Infantile muscular hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0001319Neonatal hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0030190Oral motor hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0006829Severe muscular hypotonia1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0000297Facial hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0012389Appendicular hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0031139Frog-leg posture1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0001290Generalized hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0008947Infantile muscular hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0001319Neonatal hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0030190Oral motor hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0006829Severe muscular hypotonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0000297Facial hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0012389Appendicular hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0031139Frog-leg posture1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0001290Generalized hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0008947Infantile muscular hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0001319Neonatal hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0030190Oral motor hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0006829Severe muscular hypotonia1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0000297Facial hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0012389Appendicular hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0031139Frog-leg posture1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0001290Generalized hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0008947Infantile muscular hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0001319Neonatal hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0030190Oral motor hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0006829Severe muscular hypotonia1SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0000297Facial hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0012389Appendicular hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0031139Frog-leg posture1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0001290Generalized hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0008947Infantile muscular hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0001319Neonatal hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0030190Oral motor hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0006829Severe muscular hypotonia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0000297Facial hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0012389Appendicular hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0031139Frog-leg posture1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0001290Generalized hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0008947Infantile muscular hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0001319Neonatal hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0030190Oral motor hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0006829Severe muscular hypotonia1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0000297Facial hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0012389Appendicular hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0031139Frog-leg posture1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0001290Generalized hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0008947Infantile muscular hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0001319Neonatal hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0030190Oral motor hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0006829Severe muscular hypotonia1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0000297Facial hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0012389Appendicular hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0031139Frog-leg posture1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0001290Generalized hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0008947Infantile muscular hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0001319Neonatal hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0030190Oral motor hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0006829Severe muscular hypotonia1SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0000297Facial hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0012389Appendicular hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0031139Frog-leg posture1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0001290Generalized hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0008947Infantile muscular hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0001319Neonatal hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0030190Oral motor hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0006829Severe muscular hypotonia1SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0000297Facial hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0012389Appendicular hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0031139Frog-leg posture1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0001290Generalized hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0008947Infantile muscular hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0001319Neonatal hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0030190Oral motor hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0006829Severe muscular hypotonia1SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0000297Facial hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0012389Appendicular hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0031139Frog-leg posture1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0001290Generalized hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0008947Infantile muscular hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0001319Neonatal hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0030190Oral motor hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0006829Severe muscular hypotonia1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0000297Facial hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0012389Appendicular hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0031139Frog-leg posture1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0001290Generalized hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0008947Infantile muscular hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0001319Neonatal hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0030190Oral motor hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0006829Severe muscular hypotonia1SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0000297Facial hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0012389Appendicular hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0031139Frog-leg posture1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0001290Generalized hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0008947Infantile muscular hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0001319Neonatal hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0030190Oral motor hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0006829Severe muscular hypotonia1SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0000297Facial hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0012389Appendicular hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0031139Frog-leg posture1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0001290Generalized hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0008947Infantile muscular hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0001319Neonatal hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0030190Oral motor hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0006829Severe muscular hypotonia1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0000297Facial hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0012389Appendicular hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0031139Frog-leg posture1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0001290Generalized hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0008947Infantile muscular hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0001319Neonatal hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0030190Oral motor hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0006829Severe muscular hypotonia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0000297Facial hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0012389Appendicular hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0031139Frog-leg posture1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0001290Generalized hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0008947Infantile muscular hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0001319Neonatal hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0030190Oral motor hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0006829Severe muscular hypotonia1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0000297Facial hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0012389Appendicular hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0031139Frog-leg posture1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0001290Generalized hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0008947Infantile muscular hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0001319Neonatal hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0030190Oral motor hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0006829Severe muscular hypotonia1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0000297Facial hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0012389Appendicular hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0031139Frog-leg posture1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0001290Generalized hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0008947Infantile muscular hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0001319Neonatal hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0030190Oral motor hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0006829Severe muscular hypotonia1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0000297Facial hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0012389Appendicular hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0031139Frog-leg posture1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0001290Generalized hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0008947Infantile muscular hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0001319Neonatal hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0030190Oral motor hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0006829Severe muscular hypotonia1SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0000297Facial hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0012389Appendicular hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0031139Frog-leg posture1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0001290Generalized hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0008947Infantile muscular hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0001319Neonatal hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0030190Oral motor hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0006829Severe muscular hypotonia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0000297Facial hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0012389Appendicular hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0031139Frog-leg posture1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0001290Generalized hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0008947Infantile muscular hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0001319Neonatal hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0030190Oral motor hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0006829Severe muscular hypotonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0000297Facial hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0012389Appendicular hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0031139Frog-leg posture1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0001290Generalized hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0008947Infantile muscular hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0001319Neonatal hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0030190Oral motor hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0006829Severe muscular hypotonia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0000297Facial hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0012389Appendicular hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0031139Frog-leg posture1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0001290Generalized hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0008947Infantile muscular hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0001319Neonatal hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0030190Oral motor hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0006829Severe muscular hypotonia1SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0000297Facial hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0012389Appendicular hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0031139Frog-leg posture1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0001290Generalized hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0008947Infantile muscular hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0001319Neonatal hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0030190Oral motor hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0006829Severe muscular hypotonia1SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0000297Facial hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0012389Appendicular hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0031139Frog-leg posture1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0001290Generalized hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0008947Infantile muscular hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0001319Neonatal hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0030190Oral motor hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0006829Severe muscular hypotonia1SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0000297Facial hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0012389Appendicular hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0031139Frog-leg posture1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0001290Generalized hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0008947Infantile muscular hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0001319Neonatal hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0030190Oral motor hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0006829Severe muscular hypotonia1SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0000297Facial hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0012389Appendicular hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0031139Frog-leg posture1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0001290Generalized hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0008947Infantile muscular hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0001319Neonatal hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0030190Oral motor hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0006829Severe muscular hypotonia1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0000297Facial hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0012389Appendicular hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0031139Frog-leg posture1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0001290Generalized hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0008947Infantile muscular hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0001319Neonatal hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0030190Oral motor hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0006829Severe muscular hypotonia1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0000297Facial hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0012389Appendicular hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0031139Frog-leg posture1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0001290Generalized hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0008947Infantile muscular hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0008936Muscular hypotonia of the trunk1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0001319Neonatal hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0030190Oral motor hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0006829Severe muscular hypotonia1SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0000297Facial hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0012389Appendicular hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0031139Frog-leg posture1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0001290Generalized hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0008947Infantile muscular hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0001319Neonatal hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0030190Oral motor hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0006829Severe muscular hypotonia1SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0000297Facial hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0012389Appendicular hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0031139Frog-leg posture1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0001290Generalized hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0008947Infantile muscular hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0001319Neonatal hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0030190Oral motor hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0006829Severe muscular hypotonia1SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0000297Facial hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0012389Appendicular hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0031139Frog-leg posture1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0001290Generalized hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0008947Infantile muscular hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0001319Neonatal hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0030190Oral motor hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0006829Severe muscular hypotonia1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0000297Facial hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0012389Appendicular hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0031139Frog-leg posture1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0001290Generalized hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0008947Infantile muscular hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0001319Neonatal hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0030190Oral motor hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0006829Severe muscular hypotonia1SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0000297Facial hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0012389Appendicular hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0031139Frog-leg posture1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0001290Generalized hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0008947Infantile muscular hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0001319Neonatal hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0030190Oral motor hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0006829Severe muscular hypotonia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0000297Facial hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0012389Appendicular hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0031139Frog-leg posture1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0001290Generalized hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0008947Infantile muscular hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0001319Neonatal hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0030190Oral motor hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0006829Severe muscular hypotonia1SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0000297Facial hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0012389Appendicular hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0031139Frog-leg posture1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0001290Generalized hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0008947Infantile muscular hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0001319Neonatal hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0030190Oral motor hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0006829Severe muscular hypotonia1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0000297Facial hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0012389Appendicular hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0031139Frog-leg posture1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0001290Generalized hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0008947Infantile muscular hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0008936Muscular hypotonia of the trunk1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0001319Neonatal hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0030190Oral motor hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0006829Severe muscular hypotonia1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0000297Facial hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0012389Appendicular hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0031139Frog-leg posture1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0001290Generalized hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0008947Infantile muscular hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0008936Muscular hypotonia of the trunk1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0001319Neonatal hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0030190Oral motor hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0006829Severe muscular hypotonia1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0000297Facial hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0012389Appendicular hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0031139Frog-leg posture1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0001290Generalized hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0008947Infantile muscular hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0008936Muscular hypotonia of the trunk1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0001319Neonatal hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0030190Oral motor hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0006829Severe muscular hypotonia1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0000297Facial hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0012389Appendicular hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0031139Frog-leg posture1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0001290Generalized hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0008947Infantile muscular hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0008936Muscular hypotonia of the trunk1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0001319Neonatal hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0030190Oral motor hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0006829Severe muscular hypotonia1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0000297Facial hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0012389Appendicular hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0031139Frog-leg posture1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0001290Generalized hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0008947Infantile muscular hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0008936Muscular hypotonia of the trunk1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0001319Neonatal hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0030190Oral motor hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0006829Severe muscular hypotonia1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0000297Facial hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0012389Appendicular hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0031139Frog-leg posture1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0001290Generalized hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0008947Infantile muscular hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0008936Muscular hypotonia of the trunk1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0001319Neonatal hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0030190Oral motor hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0006829Severe muscular hypotonia1STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0000297Facial hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0012389Appendicular hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0031139Frog-leg posture1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0001290Generalized hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0008947Infantile muscular hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0008936Muscular hypotonia of the trunk1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0001319Neonatal hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0030190Oral motor hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0006829Severe muscular hypotonia1STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0000297Facial hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0012389Appendicular hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0031139Frog-leg posture1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0001290Generalized hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0008947Infantile muscular hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0008936Muscular hypotonia of the trunk1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0001319Neonatal hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0030190Oral motor hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0006829Severe muscular hypotonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0000297Facial hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0012389Appendicular hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0031139Frog-leg posture1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0001290Generalized hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0008947Infantile muscular hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0008936Muscular hypotonia of the trunk1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0001319Neonatal hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0030190Oral motor hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0006829Severe muscular hypotonia1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0000297Facial hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0012389Appendicular hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0031139Frog-leg posture1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0001290Generalized hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0008947Infantile muscular hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0008936Muscular hypotonia of the trunk1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0001319Neonatal hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0030190Oral motor hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0006829Severe muscular hypotonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0000297Facial hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0012389Appendicular hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0031139Frog-leg posture1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0001290Generalized hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0008947Infantile muscular hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0008936Muscular hypotonia of the trunk1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0001319Neonatal hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0030190Oral motor hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0006829Severe muscular hypotonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0000297Facial hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0012389Appendicular hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0031139Frog-leg posture1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0001290Generalized hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0008947Infantile muscular hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0008936Muscular hypotonia of the trunk1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0001319Neonatal hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0030190Oral motor hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0006829Severe muscular hypotonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0000297Facial hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0012389Appendicular hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0031139Frog-leg posture1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0001290Generalized hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0008947Infantile muscular hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0008936Muscular hypotonia of the trunk1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0001319Neonatal hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0030190Oral motor hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0006829Severe muscular hypotonia1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0000297Facial hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0012389Appendicular hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0031139Frog-leg posture1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0001290Generalized hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0008947Infantile muscular hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0001319Neonatal hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0030190Oral motor hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0006829Severe muscular hypotonia1TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0000297Facial hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0012389Appendicular hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0031139Frog-leg posture1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0001290Generalized hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0008947Infantile muscular hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0001319Neonatal hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0030190Oral motor hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0006829Severe muscular hypotonia1TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0000297Facial hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0012389Appendicular hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0031139Frog-leg posture1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0001290Generalized hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0008947Infantile muscular hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0001319Neonatal hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0030190Oral motor hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0006829Severe muscular hypotonia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0000297Facial hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0012389Appendicular hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0031139Frog-leg posture1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0001290Generalized hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0008947Infantile muscular hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0001319Neonatal hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0030190Oral motor hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0006829Severe muscular hypotonia1TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0000297Facial hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0012389Appendicular hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0031139Frog-leg posture1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0001290Generalized hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0008947Infantile muscular hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0001319Neonatal hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0030190Oral motor hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0006829Severe muscular hypotonia1TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0000297Facial hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0012389Appendicular hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0031139Frog-leg posture1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0001290Generalized hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0008947Infantile muscular hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0008936Muscular hypotonia of the trunk1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0001319Neonatal hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0030190Oral motor hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0006829Severe muscular hypotonia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0000297Facial hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0012389Appendicular hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0031139Frog-leg posture1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0001290Generalized hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0008947Infantile muscular hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0008936Muscular hypotonia of the trunk1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0001319Neonatal hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0030190Oral motor hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0006829Severe muscular hypotonia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0000297Facial hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0012389Appendicular hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0031139Frog-leg posture1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0001290Generalized hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0008947Infantile muscular hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0008936Muscular hypotonia of the trunk1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0001319Neonatal hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0030190Oral motor hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0006829Severe muscular hypotonia1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0000297Facial hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0012389Appendicular hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0031139Frog-leg posture1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0001290Generalized hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0008947Infantile muscular hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0008936Muscular hypotonia of the trunk1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0001319Neonatal hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0030190Oral motor hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0006829Severe muscular hypotonia1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0000297Facial hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0012389Appendicular hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0031139Frog-leg posture1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0001290Generalized hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0008947Infantile muscular hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0008936Muscular hypotonia of the trunk1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0001319Neonatal hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0030190Oral motor hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0006829Severe muscular hypotonia1TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0000297Facial hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0012389Appendicular hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0031139Frog-leg posture1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0001290Generalized hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0008947Infantile muscular hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0008936Muscular hypotonia of the trunk1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0001319Neonatal hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0030190Oral motor hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0006829Severe muscular hypotonia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0000297Facial hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0012389Appendicular hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0031139Frog-leg posture1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0001290Generalized hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0008947Infantile muscular hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0008936Muscular hypotonia of the trunk1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0001319Neonatal hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0030190Oral motor hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0006829Severe muscular hypotonia1THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0000297Facial hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0012389Appendicular hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0031139Frog-leg posture1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0001290Generalized hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0008947Infantile muscular hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0008936Muscular hypotonia of the trunk1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0001319Neonatal hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0030190Oral motor hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0006829Severe muscular hypotonia1THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0000297Facial hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0012389Appendicular hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0031139Frog-leg posture1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0001290Generalized hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0008947Infantile muscular hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0008936Muscular hypotonia of the trunk1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0001319Neonatal hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0030190Oral motor hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0006829Severe muscular hypotonia1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0000297Facial hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0012389Appendicular hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0031139Frog-leg posture1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0001290Generalized hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0008947Infantile muscular hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0001319Neonatal hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0030190Oral motor hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0006829Severe muscular hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0000297Facial hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0012389Appendicular hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0031139Frog-leg posture1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0001290Generalized hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0001319Neonatal hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0030190Oral motor hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0006829Severe muscular hypotonia1TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0000297Facial hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0012389Appendicular hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0031139Frog-leg posture1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0001290Generalized hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0001319Neonatal hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0030190Oral motor hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0006829Severe muscular hypotonia1TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0000297Facial hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0012389Appendicular hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0031139Frog-leg posture1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0001290Generalized hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0001319Neonatal hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0030190Oral motor hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0006829Severe muscular hypotonia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0000297Facial hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0012389Appendicular hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0031139Frog-leg posture1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0001290Generalized hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0001319Neonatal hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0030190Oral motor hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0006829Severe muscular hypotonia1TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0000297Facial hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0012389Appendicular hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0031139Frog-leg posture1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0001290Generalized hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0001319Neonatal hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0030190Oral motor hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0006829Severe muscular hypotonia1TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0000297Facial hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0012389Appendicular hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0031139Frog-leg posture1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0001290Generalized hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0001319Neonatal hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0030190Oral motor hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0006829Severe muscular hypotonia1TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0000297Facial hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0012389Appendicular hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0031139Frog-leg posture1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0001290Generalized hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0001319Neonatal hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0030190Oral motor hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0006829Severe muscular hypotonia1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0000297Facial hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0012389Appendicular hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0031139Frog-leg posture1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0001290Generalized hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0001319Neonatal hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0030190Oral motor hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0006829Severe muscular hypotonia1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0000297Facial hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0012389Appendicular hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0031139Frog-leg posture1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0001290Generalized hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0001319Neonatal hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0030190Oral motor hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0006829Severe muscular hypotonia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0000297Facial hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0012389Appendicular hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0031139Frog-leg posture1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0001290Generalized hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0001319Neonatal hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0030190Oral motor hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0006829Severe muscular hypotonia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0000297Facial hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0012389Appendicular hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0031139Frog-leg posture1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0001290Generalized hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0001319Neonatal hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0030190Oral motor hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0006829Severe muscular hypotonia1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0000297Facial hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0012389Appendicular hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0031139Frog-leg posture1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0001290Generalized hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0001319Neonatal hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0030190Oral motor hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0006829Severe muscular hypotonia1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0000297Facial hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0012389Appendicular hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0031139Frog-leg posture1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0001290Generalized hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0008947Infantile muscular hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0008936Muscular hypotonia of the trunk1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0001319Neonatal hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0030190Oral motor hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0006829Severe muscular hypotonia1TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0000297Facial hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0012389Appendicular hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0031139Frog-leg posture1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0001290Generalized hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0008947Infantile muscular hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0008936Muscular hypotonia of the trunk1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0001319Neonatal hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0030190Oral motor hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0006829Severe muscular hypotonia1TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0000297Facial hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0012389Appendicular hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0031139Frog-leg posture1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0001290Generalized hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0008947Infantile muscular hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0008936Muscular hypotonia of the trunk1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0001319Neonatal hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0030190Oral motor hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0006829Severe muscular hypotonia1TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0000297Facial hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0012389Appendicular hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0031139Frog-leg posture1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0001290Generalized hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0008947Infantile muscular hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0008936Muscular hypotonia of the trunk1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0001319Neonatal hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0030190Oral motor hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0006829Severe muscular hypotonia1TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0000297Facial hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0012389Appendicular hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0031139Frog-leg posture1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0001290Generalized hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0008947Infantile muscular hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0008936Muscular hypotonia of the trunk1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0001319Neonatal hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0030190Oral motor hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0006829Severe muscular hypotonia1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0000297Facial hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0012389Appendicular hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0031139Frog-leg posture1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0001290Generalized hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0008947Infantile muscular hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0008936Muscular hypotonia of the trunk1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0001319Neonatal hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0030190Oral motor hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0006829Severe muscular hypotonia1TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0000297Facial hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0012389Appendicular hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0031139Frog-leg posture1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0001290Generalized hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0008947Infantile muscular hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0008936Muscular hypotonia of the trunk1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0001319Neonatal hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0030190Oral motor hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0006829Severe muscular hypotonia1TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0000297Facial hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0012389Appendicular hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0031139Frog-leg posture1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0001290Generalized hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0008947Infantile muscular hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0001319Neonatal hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0030190Oral motor hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0006829Severe muscular hypotonia1TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0000297Facial hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0012389Appendicular hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0031139Frog-leg posture1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0001290Generalized hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0008947Infantile muscular hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0001319Neonatal hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0030190Oral motor hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0006829Severe muscular hypotonia1TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0000297Facial hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0012389Appendicular hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0031139Frog-leg posture1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0001290Generalized hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0008947Infantile muscular hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0001319Neonatal hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0030190Oral motor hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0006829Severe muscular hypotonia1TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0000297Facial hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0012389Appendicular hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0031139Frog-leg posture1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0001290Generalized hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0008947Infantile muscular hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0001319Neonatal hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0030190Oral motor hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0006829Severe muscular hypotonia1TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0000297Facial hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0012389Appendicular hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0031139Frog-leg posture1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0001290Generalized hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0008947Infantile muscular hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0008936Muscular hypotonia of the trunk1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0001319Neonatal hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0030190Oral motor hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0006829Severe muscular hypotonia1TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0000297Facial hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0012389Appendicular hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0031139Frog-leg posture1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0001290Generalized hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0008947Infantile muscular hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0008936Muscular hypotonia of the trunk1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0001319Neonatal hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0030190Oral motor hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0006829Severe muscular hypotonia1TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0000297Facial hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0012389Appendicular hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0031139Frog-leg posture1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0001290Generalized hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0008947Infantile muscular hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0008936Muscular hypotonia of the trunk1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0001319Neonatal hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0030190Oral motor hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0006829Severe muscular hypotonia1TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0000297Facial hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0012389Appendicular hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0031139Frog-leg posture1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0001290Generalized hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0008947Infantile muscular hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0008936Muscular hypotonia of the trunk1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0001319Neonatal hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0030190Oral motor hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0006829Severe muscular hypotonia1TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0000297Facial hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0012389Appendicular hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0031139Frog-leg posture1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0001290Generalized hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0008947Infantile muscular hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0008936Muscular hypotonia of the trunk1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0001319Neonatal hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0030190Oral motor hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0006829Severe muscular hypotonia1TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0000297Facial hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0012389Appendicular hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0031139Frog-leg posture1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0001290Generalized hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0008947Infantile muscular hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0008936Muscular hypotonia of the trunk1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0001319Neonatal hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0030190Oral motor hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0006829Severe muscular hypotonia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0000297Facial hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0012389Appendicular hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0031139Frog-leg posture1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0001290Generalized hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0008947Infantile muscular hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0008936Muscular hypotonia of the trunk1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0001319Neonatal hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0030190Oral motor hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0006829Severe muscular hypotonia1TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0000297Facial hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0012389Appendicular hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0031139Frog-leg posture1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0001290Generalized hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0008947Infantile muscular hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0008936Muscular hypotonia of the trunk1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0001319Neonatal hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0030190Oral motor hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0006829Severe muscular hypotonia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0000297Facial hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0012389Appendicular hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0031139Frog-leg posture1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0001290Generalized hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0008947Infantile muscular hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0008936Muscular hypotonia of the trunk1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0001319Neonatal hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0030190Oral motor hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0006829Severe muscular hypotonia1UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0000297Facial hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0012389Appendicular hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0031139Frog-leg posture1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0001290Generalized hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0008947Infantile muscular hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0008936Muscular hypotonia of the trunk1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0001319Neonatal hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0030190Oral motor hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0006829Severe muscular hypotonia1UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0000297Facial hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0012389Appendicular hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0031139Frog-leg posture1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0001290Generalized hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0008947Infantile muscular hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0008936Muscular hypotonia of the trunk1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0001319Neonatal hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0030190Oral motor hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0006829Severe muscular hypotonia1UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0000297Facial hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0012389Appendicular hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0031139Frog-leg posture1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0001290Generalized hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0008947Infantile muscular hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0008936Muscular hypotonia of the trunk1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0001319Neonatal hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0030190Oral motor hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0006829Severe muscular hypotonia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0000297Facial hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0012389Appendicular hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0031139Frog-leg posture1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0001290Generalized hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0008947Infantile muscular hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0008936Muscular hypotonia of the trunk1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0001319Neonatal hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0030190Oral motor hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0006829Severe muscular hypotonia1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0000297Facial hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0012389Appendicular hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0031139Frog-leg posture1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0001290Generalized hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0008947Infantile muscular hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0008936Muscular hypotonia of the trunk1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0001319Neonatal hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0030190Oral motor hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0006829Severe muscular hypotonia1UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0000297Facial hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0012389Appendicular hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0031139Frog-leg posture1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0001290Generalized hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0008947Infantile muscular hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0008936Muscular hypotonia of the trunk1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0001319Neonatal hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0030190Oral motor hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0006829Severe muscular hypotonia1UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0000297Facial hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0012389Appendicular hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0031139Frog-leg posture1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0001290Generalized hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0008947Infantile muscular hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0008936Muscular hypotonia of the trunk1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0001319Neonatal hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0030190Oral motor hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0006829Severe muscular hypotonia1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0000297Facial hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0012389Appendicular hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0031139Frog-leg posture1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0001290Generalized hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0008947Infantile muscular hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0008936Muscular hypotonia of the trunk1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0001319Neonatal hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0030190Oral motor hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0006829Severe muscular hypotonia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0000297Facial hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0012389Appendicular hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0031139Frog-leg posture1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0001290Generalized hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0008947Infantile muscular hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0008936Muscular hypotonia of the trunk1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0001319Neonatal hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0030190Oral motor hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0006829Severe muscular hypotonia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0000297Facial hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0012389Appendicular hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0031139Frog-leg posture1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0001290Generalized hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0008947Infantile muscular hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0008936Muscular hypotonia of the trunk1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0001319Neonatal hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0030190Oral motor hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0006829Severe muscular hypotonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0000297Facial hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0012389Appendicular hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0031139Frog-leg posture1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0001290Generalized hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0008947Infantile muscular hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0008936Muscular hypotonia of the trunk1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0001319Neonatal hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0030190Oral motor hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0006829Severe muscular hypotonia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0000297Facial hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0012389Appendicular hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0031139Frog-leg posture1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0001290Generalized hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0008947Infantile muscular hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0008936Muscular hypotonia of the trunk1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0001319Neonatal hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0030190Oral motor hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0006829Severe muscular hypotonia1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0000297Facial hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0012389Appendicular hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0031139Frog-leg posture1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0001290Generalized hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0008947Infantile muscular hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0008936Muscular hypotonia of the trunk1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0001319Neonatal hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0030190Oral motor hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0006829Severe muscular hypotonia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0000297Facial hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0012389Appendicular hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0031139Frog-leg posture1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0001290Generalized hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0008947Infantile muscular hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0008936Muscular hypotonia of the trunk1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0001319Neonatal hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0030190Oral motor hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0006829Severe muscular hypotonia1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0000297Facial hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0012389Appendicular hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0031139Frog-leg posture1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0001290Generalized hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0008947Infantile muscular hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0008936Muscular hypotonia of the trunk1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0001319Neonatal hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0030190Oral motor hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0006829Severe muscular hypotonia1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0000297Facial hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0012389Appendicular hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0031139Frog-leg posture1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0001290Generalized hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0008947Infantile muscular hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0008936Muscular hypotonia of the trunk1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0001319Neonatal hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0030190Oral motor hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0006829Severe muscular hypotonia1WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0000297Facial hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0012389Appendicular hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0031139Frog-leg posture1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0001290Generalized hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0008947Infantile muscular hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0008936Muscular hypotonia of the trunk1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0001319Neonatal hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0030190Oral motor hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0006829Severe muscular hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0000297Facial hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0012389Appendicular hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0031139Frog-leg posture1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0001290Generalized hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0008947Infantile muscular hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0008936Muscular hypotonia of the trunk1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0001319Neonatal hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0030190Oral motor hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0006829Severe muscular hypotonia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0000297Facial hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0012389Appendicular hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0031139Frog-leg posture1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0001290Generalized hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0008947Infantile muscular hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0008936Muscular hypotonia of the trunk1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0001319Neonatal hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0030190Oral motor hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0006829Severe muscular hypotonia1WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0000297Facial hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0012389Appendicular hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0031139Frog-leg posture1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0001290Generalized hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0008947Infantile muscular hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0008936Muscular hypotonia of the trunk1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0001319Neonatal hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0030190Oral motor hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0006829Severe muscular hypotonia1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0000297Facial hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0012389Appendicular hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0031139Frog-leg posture1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0001290Generalized hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0008947Infantile muscular hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0008936Muscular hypotonia of the trunk1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0001319Neonatal hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0030190Oral motor hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0006829Severe muscular hypotonia1YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0000297Facial hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0012389Appendicular hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0031139Frog-leg posture1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0001290Generalized hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0008947Infantile muscular hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0008936Muscular hypotonia of the trunk1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0001319Neonatal hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0030190Oral motor hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0006829Severe muscular hypotonia1ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0000297Facial hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0012389Appendicular hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0031139Frog-leg posture1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0001290Generalized hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0008947Infantile muscular hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0008936Muscular hypotonia of the trunk1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0001319Neonatal hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0030190Oral motor hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0006829Severe muscular hypotonia1ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0000297Facial hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0012389Appendicular hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0031139Frog-leg posture1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0001290Generalized hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0008947Infantile muscular hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0008936Muscular hypotonia of the trunk1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0001319Neonatal hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0030190Oral motor hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0006829Severe muscular hypotonia1ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0006852Episodic generalized hypotonia2A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0009062Infantile axial hypotonia2A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0008935Generalized neonatal hypotonia2A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0001252HP:0006852Episodic generalized hypotonia2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0009062Infantile axial hypotonia2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0008935Generalized neonatal hypotonia2AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM118217366605113
HP:0001252HP:0006852Episodic generalized hypotonia2ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0009062Infantile axial hypotonia2ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0008935Generalized neonatal hypotonia2ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM133887604773
HP:0001252HP:0006852Episodic generalized hypotonia2ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0009062Infantile axial hypotonia2ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0008935Generalized neonatal hypotonia2ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM174989607008
HP:0001252HP:0006852Episodic generalized hypotonia2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0009062Infantile axial hypotonia2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0008935Generalized neonatal hypotonia2ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM140690606885
HP:0001252HP:0006852Episodic generalized hypotonia2ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0009062Infantile axial hypotonia2ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0008935Generalized neonatal hypotonia2ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM133791600301
HP:0001252HP:0006852Episodic generalized hypotonia2ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0009062Infantile axial hypotonia2ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0008935Generalized neonatal hypotonia2ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001252HP:0006852Episodic generalized hypotonia2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0009062Infantile axial hypotonia2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0008935Generalized neonatal hypotonia2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001252HP:0006852Episodic generalized hypotonia2ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0009062Infantile axial hypotonia2ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0008935Generalized neonatal hypotonia2ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM144123171650
HP:0001252HP:0006852Episodic generalized hypotonia2ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0009062Infantile axial hypotonia2ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0008935Generalized neonatal hypotonia2ACSL4 CL E G H218286818ORPHA12883571300157
HP:0001252HP:0006852Episodic generalized hypotonia2ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0009062Infantile axial hypotonia2ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0008935Generalized neonatal hypotonia2ACTA1 CL E G H582020ORPHA1506129102610
HP:0001252HP:0006852Episodic generalized hypotonia2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0009062Infantile axial hypotonia2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0008935Generalized neonatal hypotonia2ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1512132102630
HP:0001252HP:0006852Episodic generalized hypotonia2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0009062Infantile axial hypotonia2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0008935Generalized neonatal hypotonia2ACY1 CL E G H95137754ORPHA1153177104620
HP:0001252HP:0006852Episodic generalized hypotonia2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0009062Infantile axial hypotonia2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0008935Generalized neonatal hypotonia2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM1153177104620
HP:0001252HP:0006852Episodic generalized hypotonia2ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0009062Infantile axial hypotonia2ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0008935Generalized neonatal hypotonia2ADAMTS2 CL E G H95091901ORPHA11499218604539
HP:0001252HP:0006852Episodic generalized hypotonia2ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0009062Infantile axial hypotonia2ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0008935Generalized neonatal hypotonia2ADCY6 CL E G H1122680ORPHA1110237600294
HP:0001252HP:0006852Episodic generalized hypotonia2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0009062Infantile axial hypotonia2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0008935Generalized neonatal hypotonia2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001252HP:0006852Episodic generalized hypotonia2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0009062Infantile axial hypotonia2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0008935Generalized neonatal hypotonia2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001252HP:0006852Episodic generalized hypotonia2AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0009062Infantile axial hypotonia2AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0008935Generalized neonatal hypotonia2AHI1 CL E G H54806220493ORPHA1119421575608894
HP:0001252HP:0006852Episodic generalized hypotonia2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0009062Infantile axial hypotonia2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0008935Generalized neonatal hypotonia2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA1119421575608894
HP:0001252HP:0006852Episodic generalized hypotonia2AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0009062Infantile axial hypotonia2AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0008935Generalized neonatal hypotonia2AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM1119421575608894
HP:0001252HP:0006852Episodic generalized hypotonia2AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0009062Infantile axial hypotonia2AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0008935Generalized neonatal hypotonia2AHSG CL E G H1972850ORPHA183349138680
HP:0001252HP:0006852Episodic generalized hypotonia2AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0009062Infantile axial hypotonia2AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0008935Generalized neonatal hypotonia2AIPL1 CL E G H2374665ORPHA1479359604392
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0009062Infantile axial hypotonia2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0009062Infantile axial hypotonia2ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1763408610045
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0009062Infantile axial hypotonia2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1763408610045
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0009062Infantile axial hypotonia2ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH7A1 CL E G H5013006ORPHA1884877107323
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0009062Infantile axial hypotonia2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1884877107323
HP:0001252HP:0006852Episodic generalized hypotonia2ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0009062Infantile axial hypotonia2ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0008935Generalized neonatal hypotonia2ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0001252HP:0006852Episodic generalized hypotonia2ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0009062Infantile axial hypotonia2ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0008935Generalized neonatal hypotonia2ALG12 CL E G H7908779324ORPHA165919358607144
HP:0001252HP:0006852Episodic generalized hypotonia2ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0009062Infantile axial hypotonia2ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0008935Generalized neonatal hypotonia2ALG3 CL E G H1019579321ORPHA121923056608750
HP:0001252HP:0006852Episodic generalized hypotonia2ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0009062Infantile axial hypotonia2ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0008935Generalized neonatal hypotonia2ALG6 CL E G H2992979320ORPHA165523157604566
HP:0001252HP:0006852Episodic generalized hypotonia2ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0009062Infantile axial hypotonia2ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0008935Generalized neonatal hypotonia2ALG9 CL E G H7979679328ORPHA131215672606941
HP:0001252HP:0006852Episodic generalized hypotonia2ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0009062Infantile axial hypotonia2ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0008935Generalized neonatal hypotonia2ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1934438171760
HP:0001252HP:0006852Episodic generalized hypotonia2AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0009062Infantile axial hypotonia2AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0008935Generalized neonatal hypotonia2AMMECR1 CL E G H994986818ORPHA1218467300195
HP:0001252HP:0006852Episodic generalized hypotonia2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0009062Infantile axial hypotonia2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0008935Generalized neonatal hypotonia2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001252HP:0006852Episodic generalized hypotonia2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0009062Infantile axial hypotonia2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0008935Generalized neonatal hypotonia2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA129321732608041
HP:0001252HP:0006852Episodic generalized hypotonia2AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0009062Infantile axial hypotonia2AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0008935Generalized neonatal hypotonia2AP1S2 CL E G H890585335ORPHA1241560300629
HP:0001252HP:0006852Episodic generalized hypotonia2APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0009062Infantile axial hypotonia2APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0008935Generalized neonatal hypotonia2APC2 CL E G H10297821ORPHA173024036612034
HP:0001252HP:0006852Episodic generalized hypotonia2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0009062Infantile axial hypotonia2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0008935Generalized neonatal hypotonia2APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001252HP:0006852Episodic generalized hypotonia2AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0009062Infantile axial hypotonia2AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0008935Generalized neonatal hypotonia2AR CL E G H367481ORPHA1649644313700
HP:0001252HP:0006852Episodic generalized hypotonia2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0009062Infantile axial hypotonia2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0008935Generalized neonatal hypotonia2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0001252HP:0006852Episodic generalized hypotonia2ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0009062Infantile axial hypotonia2ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0008935Generalized neonatal hypotonia2ARID1A CL E G H82891465ORPHA193011110603024
HP:0001252HP:0006852Episodic generalized hypotonia2ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0009062Infantile axial hypotonia2ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0008935Generalized neonatal hypotonia2ARID1B CL E G H574921465ORPHA1175918040614556
HP:0001252HP:0006852Episodic generalized hypotonia2ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0009062Infantile axial hypotonia2ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0008935Generalized neonatal hypotonia2ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1175918040614556
HP:0001252HP:0006852Episodic generalized hypotonia2ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0009062Infantile axial hypotonia2ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0008935Generalized neonatal hypotonia2ARID2 CL E G H1965281465ORPHA131318037609539
HP:0001252HP:0006852Episodic generalized hypotonia2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0009062Infantile axial hypotonia2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0008935Generalized neonatal hypotonia2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA134025419608922
HP:0001252HP:0006852Episodic generalized hypotonia2ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0009062Infantile axial hypotonia2ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0008935Generalized neonatal hypotonia2ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM134025419608922
HP:0001252HP:0006852Episodic generalized hypotonia2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0009062Infantile axial hypotonia2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0008935Generalized neonatal hypotonia2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1137694604695
HP:0001252HP:0006852Episodic generalized hypotonia2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0009062Infantile axial hypotonia2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0008935Generalized neonatal hypotonia2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA163120730617612
HP:0001252HP:0006852Episodic generalized hypotonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0009062Infantile axial hypotonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0008935Generalized neonatal hypotonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001252HP:0006852Episodic generalized hypotonia2ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0009062Infantile axial hypotonia2ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0008935Generalized neonatal hypotonia2ARVCF CL E G H421567ORPHA1620728602269
HP:0001252HP:0006852Episodic generalized hypotonia2ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0009062Infantile axial hypotonia2ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0008935Generalized neonatal hypotonia2ARX CL E G H170302452ORPHA181018060300382
HP:0001252HP:0006852Episodic generalized hypotonia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0009062Infantile axial hypotonia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0008935Generalized neonatal hypotonia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001252HP:0006852Episodic generalized hypotonia2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0009062Infantile axial hypotonia2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0008935Generalized neonatal hypotonia2ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA143738100790
HP:0001252HP:0006852Episodic generalized hypotonia2ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0009062Infantile axial hypotonia2ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0008935Generalized neonatal hypotonia2ASPA CL E G H443314911ORPHA1388756608034
HP:0001252HP:0006852Episodic generalized hypotonia2ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0009062Infantile axial hypotonia2ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0008935Generalized neonatal hypotonia2ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1388756608034
HP:0001252HP:0006852Episodic generalized hypotonia2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0009062Infantile axial hypotonia2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0008935Generalized neonatal hypotonia2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM178018318612990
HP:0001252HP:0006852Episodic generalized hypotonia2ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0009062Infantile axial hypotonia2ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0008935Generalized neonatal hypotonia2ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1209779608179
HP:0001252HP:0006852Episodic generalized hypotonia2ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0009062Infantile axial hypotonia2ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0008935Generalized neonatal hypotonia2ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1230794601731
HP:0001252HP:0006852Episodic generalized hypotonia2ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0009062Infantile axial hypotonia2ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0008935Generalized neonatal hypotonia2ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM161018481611716
HP:0001252HP:0006852Episodic generalized hypotonia2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0009062Infantile axial hypotonia2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0008935Generalized neonatal hypotonia2ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM161018481611716
HP:0001252HP:0006852Episodic generalized hypotonia2ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0009062Infantile axial hypotonia2ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0008935Generalized neonatal hypotonia2ATP7A CL E G H538198ORPHA11751869300011
HP:0001252HP:0006852Episodic generalized hypotonia2ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0009062Infantile axial hypotonia2ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0008935Generalized neonatal hypotonia2ATP7A CL E G H538565ORPHA11751869300011
HP:0001252HP:0006852Episodic generalized hypotonia2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0009062Infantile axial hypotonia2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0008935Generalized neonatal hypotonia2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001252HP:0006852Episodic generalized hypotonia2ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0009062Infantile axial hypotonia2ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0008935Generalized neonatal hypotonia2ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001252HP:0006852Episodic generalized hypotonia2ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0009062Infantile axial hypotonia2ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0008935Generalized neonatal hypotonia2ATRX CL E G H546847ORPHA11925886300032
HP:0001252HP:0006852Episodic generalized hypotonia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0009062Infantile axial hypotonia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0008935Generalized neonatal hypotonia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001252HP:0006852Episodic generalized hypotonia2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0009062Infantile axial hypotonia2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0008935Generalized neonatal hypotonia2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001252HP:0006852Episodic generalized hypotonia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0009062Infantile axial hypotonia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0008935Generalized neonatal hypotonia2B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0001252HP:0006852Episodic generalized hypotonia2B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0009062Infantile axial hypotonia2B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0008935Generalized neonatal hypotonia2B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0001252HP:0006852Episodic generalized hypotonia2B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0009062Infantile axial hypotonia2B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0008935Generalized neonatal hypotonia2B3GALT6 CL E G H12679275496ORPHA145017978615291
HP:0001252HP:0006852Episodic generalized hypotonia2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0009062Infantile axial hypotonia2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0008935Generalized neonatal hypotonia2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM145017978615291
HP:0001252HP:0006852Episodic generalized hypotonia2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0009062Infantile axial hypotonia2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0008935Generalized neonatal hypotonia2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0001252HP:0006852Episodic generalized hypotonia2B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0009062Infantile axial hypotonia2B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0008935Generalized neonatal hypotonia2B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0001252HP:0006852Episodic generalized hypotonia2B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0009062Infantile axial hypotonia2B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0008935Generalized neonatal hypotonia2B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1184924137060
HP:0001252HP:0006852Episodic generalized hypotonia2B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0009062Infantile axial hypotonia2B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0008935Generalized neonatal hypotonia2B4GALT7 CL E G H1128575496ORPHA1358930604327
HP:0001252HP:0006852Episodic generalized hypotonia2B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0009062Infantile axial hypotonia2B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0008935Generalized neonatal hypotonia2B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1358930604327
HP:0001252HP:0006852Episodic generalized hypotonia2B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0009062Infantile axial hypotonia2B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0008935Generalized neonatal hypotonia2B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0001252HP:0006852Episodic generalized hypotonia2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0009062Infantile axial hypotonia2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0008935Generalized neonatal hypotonia2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA131024123614144
HP:0001252HP:0006852Episodic generalized hypotonia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0009062Infantile axial hypotonia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0008935Generalized neonatal hypotonia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001252HP:0006852Episodic generalized hypotonia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0009062Infantile axial hypotonia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0008935Generalized neonatal hypotonia2BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1596986608348
HP:0001252HP:0006852Episodic generalized hypotonia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0009062Infantile axial hypotonia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0008935Generalized neonatal hypotonia2BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1647987248611
HP:0001252HP:0006852Episodic generalized hypotonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0009062Infantile axial hypotonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0008935Generalized neonatal hypotonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001252HP:0006852Episodic generalized hypotonia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0009062Infantile axial hypotonia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0008935Generalized neonatal hypotonia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001252HP:0006852Episodic generalized hypotonia2BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0009062Infantile axial hypotonia2BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0008935Generalized neonatal hypotonia2BRAF CL E G H673648ORPHA111821097164757
HP:0001252HP:0006852Episodic generalized hypotonia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0009062Infantile axial hypotonia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0008935Generalized neonatal hypotonia2BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001252HP:0006852Episodic generalized hypotonia2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0009062Infantile axial hypotonia2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0008935Generalized neonatal hypotonia2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA111821097164757
HP:0001252HP:0006852Episodic generalized hypotonia2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0009062Infantile axial hypotonia2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0008935Generalized neonatal hypotonia2BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM167917342300553
HP:0001252HP:0006852Episodic generalized hypotonia2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0009062Infantile axial hypotonia2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0008935Generalized neonatal hypotonia2BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM130316512606412
HP:0001252HP:0006852Episodic generalized hypotonia2BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0009062Infantile axial hypotonia2BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0008935Generalized neonatal hypotonia2BTD CL E G H68679241ORPHA15981122609019
HP:0001252HP:0006852Episodic generalized hypotonia2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0009062Infantile axial hypotonia2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0008935Generalized neonatal hypotonia2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM15981122609019
HP:0001252HP:0006852Episodic generalized hypotonia2CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0009062Infantile axial hypotonia2CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0008935Generalized neonatal hypotonia2CA8 CL E G H7671766ORPHA1941382114815
HP:0001252HP:0006852Episodic generalized hypotonia2CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0009062Infantile axial hypotonia2CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0008935Generalized neonatal hypotonia2CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0001252HP:0006852Episodic generalized hypotonia2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0009062Infantile axial hypotonia2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0008935Generalized neonatal hypotonia2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM129919721613165
HP:0001252HP:0006852Episodic generalized hypotonia2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0009062Infantile axial hypotonia2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0008935Generalized neonatal hypotonia2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0001252HP:0006852Episodic generalized hypotonia2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0009062Infantile axial hypotonia2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0008935Generalized neonatal hypotonia2CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM123301514601199
HP:0001252HP:0006852Episodic generalized hypotonia2CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0009062Infantile axial hypotonia2CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0008935Generalized neonatal hypotonia2CC2D2A CL E G H575452318ORPHA1152529253612013
HP:0001252HP:0006852Episodic generalized hypotonia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0009062Infantile axial hypotonia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0008935Generalized neonatal hypotonia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001252HP:0006852Episodic generalized hypotonia2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0009062Infantile axial hypotonia2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0008935Generalized neonatal hypotonia2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001252HP:0006852Episodic generalized hypotonia2CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0009062Infantile axial hypotonia2CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0008935Generalized neonatal hypotonia2CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0001252HP:0006852Episodic generalized hypotonia2CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0009062Infantile axial hypotonia2CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0008935Generalized neonatal hypotonia2CD96 CL E G H10225211750C syndrome211750C0796095OMIM111116892606037
HP:0001252HP:0006852Episodic generalized hypotonia2CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0009062Infantile axial hypotonia2CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0008935Generalized neonatal hypotonia2CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA111116892606037
HP:0001252HP:0006852Episodic generalized hypotonia2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0009062Infantile axial hypotonia2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0008935Generalized neonatal hypotonia2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001252HP:0006852Episodic generalized hypotonia2CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0009062Infantile axial hypotonia2CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0008935Generalized neonatal hypotonia2CDKN1C CL E G H102885173ORPHA110681786600856
HP:0001252HP:0006852Episodic generalized hypotonia2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0009062Infantile axial hypotonia2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA150624866616690
HP:0001252HP:0006852Episodic generalized hypotonia2CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0009062Infantile axial hypotonia2CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP120 CL E G H153241220493ORPHA143326690613446
HP:0001252HP:0006852Episodic generalized hypotonia2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0009062Infantile axial hypotonia2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA143326690613446
HP:0001252HP:0006852Episodic generalized hypotonia2CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0009062Infantile axial hypotonia2CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP290 CL E G H8018465ORPHA1294429021610142
HP:0001252HP:0006852Episodic generalized hypotonia2CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0009062Infantile axial hypotonia2CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP290 CL E G H801842318ORPHA1294429021610142
HP:0001252HP:0006852Episodic generalized hypotonia2CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0009062Infantile axial hypotonia2CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1294429021610142
HP:0001252HP:0006852Episodic generalized hypotonia2CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0009062Infantile axial hypotonia2CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP41 CL E G H95681220493ORPHA143512370610523
HP:0001252HP:0006852Episodic generalized hypotonia2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0009062Infantile axial hypotonia2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA143512370610523
HP:0001252HP:0006852Episodic generalized hypotonia2CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0009062Infantile axial hypotonia2CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0008935Generalized neonatal hypotonia2CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11671875601443
HP:0001252HP:0006852Episodic generalized hypotonia2CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0009062Infantile axial hypotonia2CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0008935Generalized neonatal hypotonia2CHD7 CL E G H55636138ORPHA1293020626608892
HP:0001252HP:0006852Episodic generalized hypotonia2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0009062Infantile axial hypotonia2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0008935Generalized neonatal hypotonia2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0001252HP:0006852Episodic generalized hypotonia2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0009062Infantile axial hypotonia2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0008935Generalized neonatal hypotonia2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA116826877616174
HP:0001252HP:0006852Episodic generalized hypotonia2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0009062Infantile axial hypotonia2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0008935Generalized neonatal hypotonia2CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM12302026602024
HP:0001252HP:0006852Episodic generalized hypotonia2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0009062Infantile axial hypotonia2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0008935Generalized neonatal hypotonia2CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM14782027602023
HP:0001252HP:0006852Episodic generalized hypotonia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0009062Infantile axial hypotonia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0008935Generalized neonatal hypotonia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001252HP:0006852Episodic generalized hypotonia2CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0009062Infantile axial hypotonia2CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0008935Generalized neonatal hypotonia2CNTNAP1 CL E G H85062680ORPHA14258011602346
HP:0001252HP:0006852Episodic generalized hypotonia2COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0009062Infantile axial hypotonia2COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0008935Generalized neonatal hypotonia2COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001252HP:0006852Episodic generalized hypotonia2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0009062Infantile axial hypotonia2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0008935Generalized neonatal hypotonia2COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001252HP:0006852Episodic generalized hypotonia2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0009062Infantile axial hypotonia2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0008935Generalized neonatal hypotonia2COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13916545606973
HP:0001252HP:0006852Episodic generalized hypotonia2COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0009062Infantile axial hypotonia2COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0008935Generalized neonatal hypotonia2COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM180214857606821
HP:0001252HP:0006852Episodic generalized hypotonia2COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0009062Infantile axial hypotonia2COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0008935Generalized neonatal hypotonia2COG7 CL E G H9194979333ORPHA145618622606978
HP:0001252HP:0006852Episodic generalized hypotonia2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0009062Infantile axial hypotonia2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0008935Generalized neonatal hypotonia2COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM124518623606979
HP:0001252HP:0006852Episodic generalized hypotonia2COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0009062Infantile axial hypotonia2COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0008935Generalized neonatal hypotonia2COL1A1 CL E G H12771899ORPHA124282197120150
HP:0001252HP:0006852Episodic generalized hypotonia2COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0009062Infantile axial hypotonia2COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0008935Generalized neonatal hypotonia2COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM124282197120150
HP:0001252HP:0006852Episodic generalized hypotonia2COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0009062Infantile axial hypotonia2COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0008935Generalized neonatal hypotonia2COL1A2 CL E G H12781899ORPHA117592198120160
HP:0001252HP:0006852Episodic generalized hypotonia2COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0009062Infantile axial hypotonia2COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0008935Generalized neonatal hypotonia2COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM123802200120140
HP:0001252HP:0006852Episodic generalized hypotonia2COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0009062Infantile axial hypotonia2COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0008935Generalized neonatal hypotonia2COL4A1 CL E G H1282899ORPHA117852202120130
HP:0001252HP:0006852Episodic generalized hypotonia2COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0009062Infantile axial hypotonia2COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0008935Generalized neonatal hypotonia2COLQ CL E G H829298915ORPHA15422226603033
HP:0001252HP:0006852Episodic generalized hypotonia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0009062Infantile axial hypotonia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0008935Generalized neonatal hypotonia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM15422226603033
HP:0001252HP:0006852Episodic generalized hypotonia2COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0009062Infantile axial hypotonia2COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0008935Generalized neonatal hypotonia2COMT CL E G H1312567ORPHA16102228116790
HP:0001252HP:0006852Episodic generalized hypotonia2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0009062Infantile axial hypotonia2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0008935Generalized neonatal hypotonia2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM12032244601683
HP:0001252HP:0006852Episodic generalized hypotonia2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0009062Infantile axial hypotonia2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0008935Generalized neonatal hypotonia2COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001252HP:0006852Episodic generalized hypotonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0009062Infantile axial hypotonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0008935Generalized neonatal hypotonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001252HP:0006852Episodic generalized hypotonia2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0009062Infantile axial hypotonia2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0008935Generalized neonatal hypotonia2COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001252HP:0006852Episodic generalized hypotonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0009062Infantile axial hypotonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0008935Generalized neonatal hypotonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001252HP:0006852Episodic generalized hypotonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0009062Infantile axial hypotonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0008935Generalized neonatal hypotonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001252HP:0006852Episodic generalized hypotonia2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0009062Infantile axial hypotonia2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0008935Generalized neonatal hypotonia2COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001252HP:0006852Episodic generalized hypotonia2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0009062Infantile axial hypotonia2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0008935Generalized neonatal hypotonia2COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001252HP:0006852Episodic generalized hypotonia2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0009062Infantile axial hypotonia2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0008935Generalized neonatal hypotonia2COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001252HP:0006852Episodic generalized hypotonia2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0009062Infantile axial hypotonia2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0008935Generalized neonatal hypotonia2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1198925801614571
HP:0001252HP:0006852Episodic generalized hypotonia2CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0009062Infantile axial hypotonia2CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0008935Generalized neonatal hypotonia2CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1198925801614571
HP:0001252HP:0006852Episodic generalized hypotonia2CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0009062Infantile axial hypotonia2CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0008935Generalized neonatal hypotonia2CPS1 CL E G H1373147ORPHA115072323608307
HP:0001252HP:0006852Episodic generalized hypotonia2CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0009062Infantile axial hypotonia2CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0008935Generalized neonatal hypotonia2CPT1A CL E G H1374156ORPHA18372328600528
HP:0001252HP:0006852Episodic generalized hypotonia2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0009062Infantile axial hypotonia2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0008935Generalized neonatal hypotonia2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM18372328600528
HP:0001252HP:0006852Episodic generalized hypotonia2CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0009062Infantile axial hypotonia2CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0008935Generalized neonatal hypotonia2CPT2 CL E G H1376228308ORPHA18762330600650
HP:0001252HP:0006852Episodic generalized hypotonia2CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0009062Infantile axial hypotonia2CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0008935Generalized neonatal hypotonia2CRB1 CL E G H2341865ORPHA116332343604210
HP:0001252HP:0006852Episodic generalized hypotonia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0009062Infantile axial hypotonia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0008935Generalized neonatal hypotonia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001252HP:0006852Episodic generalized hypotonia2CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0009062Infantile axial hypotonia2CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0008935Generalized neonatal hypotonia2CRX CL E G H140665ORPHA14992383602225
HP:0001252HP:0006852Episodic generalized hypotonia2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0009062Infantile axial hypotonia2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0008935Generalized neonatal hypotonia2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA1107426193611654
HP:0001252HP:0006852Episodic generalized hypotonia2CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0009062Infantile axial hypotonia2CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0008935Generalized neonatal hypotonia2CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13512516604275
HP:0001252HP:0006852Episodic generalized hypotonia2CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0009062Infantile axial hypotonia2CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0008935Generalized neonatal hypotonia2CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM12362606609506
HP:0001252HP:0006852Episodic generalized hypotonia2CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0009062Infantile axial hypotonia2CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0008935Generalized neonatal hypotonia2CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM114620580608713
HP:0001252HP:0006852Episodic generalized hypotonia2D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0009062Infantile axial hypotonia2D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0008935Generalized neonatal hypotonia2D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM146828358609186
HP:0001252HP:0006852Episodic generalized hypotonia2DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0009062Infantile axial hypotonia2DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0008935Generalized neonatal hypotonia2DAG1 CL E G H1605899ORPHA16302666128239
HP:0001252HP:0006852Episodic generalized hypotonia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0009062Infantile axial hypotonia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0008935Generalized neonatal hypotonia2DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM16832698248610
HP:0001252HP:0006852Episodic generalized hypotonia2DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0009062Infantile axial hypotonia2DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0008935Generalized neonatal hypotonia2DCX CL E G H16412148ORPHA14232714300121
HP:0001252HP:0006852Episodic generalized hypotonia2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0009062Infantile axial hypotonia2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0008935Generalized neonatal hypotonia2DEAF1 CL E G H10522819ORPHA169514677602635
HP:0001252HP:0006852Episodic generalized hypotonia2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0009062Infantile axial hypotonia2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0008935Generalized neonatal hypotonia2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001252HP:0006852Episodic generalized hypotonia2DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0009062Infantile axial hypotonia2DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0008935Generalized neonatal hypotonia2DHCR7 CL E G H1717818ORPHA17792860602858
HP:0001252HP:0006852Episodic generalized hypotonia2DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0009062Infantile axial hypotonia2DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0008935Generalized neonatal hypotonia2DIS3L2 CL E G H1295632849ORPHA1200828648614184
HP:0001252HP:0006852Episodic generalized hypotonia2DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0009062Infantile axial hypotonia2DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0008935Generalized neonatal hypotonia2DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM181842928300377
HP:0001252HP:0006852Episodic generalized hypotonia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0009062Infantile axial hypotonia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0008935Generalized neonatal hypotonia2DMPK CL E G H1760273ORPHA12732933605377
HP:0001252HP:0006852Episodic generalized hypotonia2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0009062Infantile axial hypotonia2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0008935Generalized neonatal hypotonia2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0001252HP:0006852Episodic generalized hypotonia2DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0009062Infantile axial hypotonia2DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0008935Generalized neonatal hypotonia2DPAGT1 CL E G H179886309ORPHA13122995191350
HP:0001252HP:0006852Episodic generalized hypotonia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0009062Infantile axial hypotonia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0008935Generalized neonatal hypotonia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001252HP:0006852Episodic generalized hypotonia2DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0009062Infantile axial hypotonia2DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0008935Generalized neonatal hypotonia2DPF2 CL E G H59771465ORPHA11189964601671
HP:0001252HP:0006852Episodic generalized hypotonia2DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0009062Infantile axial hypotonia2DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0008935Generalized neonatal hypotonia2DPM1 CL E G H881379322ORPHA12553005603503
HP:0001252HP:0006852Episodic generalized hypotonia2DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0009062Infantile axial hypotonia2DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0008935Generalized neonatal hypotonia2DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12553005603503
HP:0001252HP:0006852Episodic generalized hypotonia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0009062Infantile axial hypotonia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0008935Generalized neonatal hypotonia2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM14463012612779
HP:0001252HP:0006852Episodic generalized hypotonia2DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0009062Infantile axial hypotonia2DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0008935Generalized neonatal hypotonia2DUOX2 CL E G H5050695716ORPHA1120313273606759
HP:0001252HP:0006852Episodic generalized hypotonia2DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0009062Infantile axial hypotonia2DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0008935Generalized neonatal hypotonia2DUOXA2 CL E G H40575395716ORPHA19432698612772
HP:0001252HP:0006852Episodic generalized hypotonia2DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0009062Infantile axial hypotonia2DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0008935Generalized neonatal hypotonia2DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM137872961600112
HP:0001252HP:0006852Episodic generalized hypotonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0009062Infantile axial hypotonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0008935Generalized neonatal hypotonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001252HP:0006852Episodic generalized hypotonia2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0009062Infantile axial hypotonia2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0008935Generalized neonatal hypotonia2EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM13163180131244
HP:0001252HP:0006852Episodic generalized hypotonia2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0009062Infantile axial hypotonia2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0008935Generalized neonatal hypotonia2EFNB1 CL E G H19471520ORPHA12573226300035
HP:0001252HP:0006852Episodic generalized hypotonia2EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0009062Infantile axial hypotonia2EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0008935Generalized neonatal hypotonia2EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12573226300035
HP:0001252HP:0006852Episodic generalized hypotonia2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0009062Infantile axial hypotonia2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0008935Generalized neonatal hypotonia2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0001252HP:0006852Episodic generalized hypotonia2EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0009062Infantile axial hypotonia2EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0008935Generalized neonatal hypotonia2EHMT1 CL E G H7981396147ORPHA1192324650607001
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0009062Infantile axial hypotonia2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0009062Infantile axial hypotonia2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11923257606686
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0009062Infantile axial hypotonia2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11903258606454
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0009062Infantile axial hypotonia2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11813259606273
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0009062Infantile axial hypotonia2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12333260606687
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0009062Infantile axial hypotonia2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM15793261603945
HP:0001252HP:0006852Episodic generalized hypotonia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0009062Infantile axial hypotonia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0008935Generalized neonatal hypotonia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001252HP:0006852Episodic generalized hypotonia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0009062Infantile axial hypotonia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0008935Generalized neonatal hypotonia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001252HP:0006852Episodic generalized hypotonia2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0009062Infantile axial hypotonia2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0008935Generalized neonatal hypotonia2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001252HP:0006852Episodic generalized hypotonia2ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0009062Infantile axial hypotonia2ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0008935Generalized neonatal hypotonia2ELP1 CL E G H85181764ORPHA117525959603722
HP:0001252HP:0006852Episodic generalized hypotonia2ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0009062Infantile axial hypotonia2ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0008935Generalized neonatal hypotonia2ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM117525959603722
HP:0001252HP:0006852Episodic generalized hypotonia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0009062Infantile axial hypotonia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0008935Generalized neonatal hypotonia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001252HP:0006852Episodic generalized hypotonia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0009062Infantile axial hypotonia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0008935Generalized neonatal hypotonia2EPCAM CL E G H4072144ORPHA174411529185535
HP:0001252HP:0006852Episodic generalized hypotonia2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0009062Infantile axial hypotonia2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0008935Generalized neonatal hypotonia2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1164029331615068
HP:0001252HP:0006852Episodic generalized hypotonia2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0009062Infantile axial hypotonia2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0008935Generalized neonatal hypotonia2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1164029331615068
HP:0001252HP:0006852Episodic generalized hypotonia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0009062Infantile axial hypotonia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0008935Generalized neonatal hypotonia2ERCC1 CL E G H20671466ORPHA11613433126380
HP:0001252HP:0006852Episodic generalized hypotonia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0009062Infantile axial hypotonia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0008935Generalized neonatal hypotonia2ERCC2 CL E G H20681466ORPHA115723434126340
HP:0001252HP:0006852Episodic generalized hypotonia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0009062Infantile axial hypotonia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0008935Generalized neonatal hypotonia2ERCC5 CL E G H20731466ORPHA14913437133530
HP:0001252HP:0006852Episodic generalized hypotonia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0009062Infantile axial hypotonia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0008935Generalized neonatal hypotonia2ERCC6 CL E G H20741466ORPHA116453438609413
HP:0001252HP:0006852Episodic generalized hypotonia2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0009062Infantile axial hypotonia2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0008935Generalized neonatal hypotonia2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM116453438609413
HP:0001252HP:0006852Episodic generalized hypotonia2ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0009062Infantile axial hypotonia2ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0008935Generalized neonatal hypotonia2ERF CL E G H20773267ORPHA11783444611888
HP:0001252HP:0006852Episodic generalized hypotonia2ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0009062Infantile axial hypotonia2ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0008935Generalized neonatal hypotonia2ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM14303481608053
HP:0001252HP:0006852Episodic generalized hypotonia2ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0009062Infantile axial hypotonia2ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0008935Generalized neonatal hypotonia2ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM12653482130410
HP:0001252HP:0006852Episodic generalized hypotonia2ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0009062Infantile axial hypotonia2ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0008935Generalized neonatal hypotonia2ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM17783483231675
HP:0001252HP:0006852Episodic generalized hypotonia2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0009062Infantile axial hypotonia2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0008935Generalized neonatal hypotonia2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0001252HP:0006852Episodic generalized hypotonia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0009062Infantile axial hypotonia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0008935Generalized neonatal hypotonia2EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM15383527601573
HP:0001252HP:0006852Episodic generalized hypotonia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0009062Infantile axial hypotonia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0008935Generalized neonatal hypotonia2FAN1 CL E G H22909144ORPHA148229170613534
HP:0001252HP:0006852Episodic generalized hypotonia2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0009062Infantile axial hypotonia2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0008935Generalized neonatal hypotonia2FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001252HP:0006852Episodic generalized hypotonia2FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0009062Infantile axial hypotonia2FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0008935Generalized neonatal hypotonia2FBN1 CL E G H22002462ORPHA166193603134797
HP:0001252HP:0006852Episodic generalized hypotonia2FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0009062Infantile axial hypotonia2FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0008935Generalized neonatal hypotonia2FBN1 CL E G H2200284979ORPHA166193603134797
HP:0001252HP:0006852Episodic generalized hypotonia2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0009062Infantile axial hypotonia2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0008935Generalized neonatal hypotonia2FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM12123606611570
HP:0001252HP:0006852Episodic generalized hypotonia2FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0009062Infantile axial hypotonia2FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0008935Generalized neonatal hypotonia2FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM112530546614585
HP:0001252HP:0006852Episodic generalized hypotonia2FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0009062Infantile axial hypotonia2FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0008935Generalized neonatal hypotonia2FGFR3 CL E G H22611860ORPHA19163690134934
HP:0001252HP:0006852Episodic generalized hypotonia2FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0009062Infantile axial hypotonia2FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0008935Generalized neonatal hypotonia2FGFR3 CL E G H226193274ORPHA19163690134934
HP:0001252HP:0006852Episodic generalized hypotonia2FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0009062Infantile axial hypotonia2FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0008935Generalized neonatal hypotonia2FGFR3 CL E G H226115Antisocial personality disorderORPHA19163690134934
HP:0001252HP:0006852Episodic generalized hypotonia2FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0009062Infantile axial hypotonia2FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0008935Generalized neonatal hypotonia2FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0001252HP:0006852Episodic generalized hypotonia2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0009062Infantile axial hypotonia2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0008935Generalized neonatal hypotonia2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM117983700136850
HP:0001252HP:0006852Episodic generalized hypotonia2FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0009062Infantile axial hypotonia2FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0008935Generalized neonatal hypotonia2FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM122018625614505
HP:0001252HP:0006852Episodic generalized hypotonia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0009062Infantile axial hypotonia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0008935Generalized neonatal hypotonia2FKRP CL E G H79147588ORPHA195017997606596
HP:0001252HP:0006852Episodic generalized hypotonia2FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0009062Infantile axial hypotonia2FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0008935Generalized neonatal hypotonia2FKRP CL E G H79147899ORPHA195017997606596
HP:0001252HP:0006852Episodic generalized hypotonia2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0009062Infantile axial hypotonia2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0008935Generalized neonatal hypotonia2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0001252HP:0006852Episodic generalized hypotonia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0009062Infantile axial hypotonia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0008935Generalized neonatal hypotonia2FKTN CL E G H2218588ORPHA19143622607440
HP:0001252HP:0006852Episodic generalized hypotonia2FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0009062Infantile axial hypotonia2FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0008935Generalized neonatal hypotonia2FKTN CL E G H2218899ORPHA19143622607440
HP:0001252HP:0006852Episodic generalized hypotonia2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0009062Infantile axial hypotonia2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0008935Generalized neonatal hypotonia2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0001252HP:0006852Episodic generalized hypotonia2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0009062Infantile axial hypotonia2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0008935Generalized neonatal hypotonia2FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM19143622607440
HP:0001252HP:0006852Episodic generalized hypotonia2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0009062Infantile axial hypotonia2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0008935Generalized neonatal hypotonia2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0001252HP:0006852Episodic generalized hypotonia2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0009062Infantile axial hypotonia2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0008935Generalized neonatal hypotonia2FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0001252HP:0006852Episodic generalized hypotonia2FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0009062Infantile axial hypotonia2FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0008935Generalized neonatal hypotonia2FLII CL E G H2314819ORPHA12193750600362
HP:0001252HP:0006852Episodic generalized hypotonia2FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0009062Infantile axial hypotonia2FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0008935Generalized neonatal hypotonia2FMR1 CL E G H2332908ORPHA13713775309550
HP:0001252HP:0006852Episodic generalized hypotonia2FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0009062Infantile axial hypotonia2FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0008935Generalized neonatal hypotonia2FMR1 CL E G H2332261483ORPHA13713775309550
HP:0001252HP:0006852Episodic generalized hypotonia2FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0009062Infantile axial hypotonia2FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0008935Generalized neonatal hypotonia2FOXE1 CL E G H230495713ORPHA1903806602617
HP:0001252HP:0006852Episodic generalized hypotonia2FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0009062Infantile axial hypotonia2FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0008935Generalized neonatal hypotonia2FOXG1 CL E G H2290261144ORPHA17253811164874
HP:0001252HP:0006852Episodic generalized hypotonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0009062Infantile axial hypotonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0008935Generalized neonatal hypotonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001252HP:0006852Episodic generalized hypotonia2FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0009062Infantile axial hypotonia2FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0008935Generalized neonatal hypotonia2FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA13084006612280
HP:0001252HP:0006852Episodic generalized hypotonia2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0009062Infantile axial hypotonia2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0008935Generalized neonatal hypotonia2GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM124424065606800
HP:0001252HP:0006852Episodic generalized hypotonia2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0009062Infantile axial hypotonia2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0008935Generalized neonatal hypotonia2GABRA1 CL E G H255433069ORPHA16064075137160
HP:0001252HP:0006852Episodic generalized hypotonia2GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0009062Infantile axial hypotonia2GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0008935Generalized neonatal hypotonia2GABRD CL E G H25631606ORPHA14744084137163
HP:0001252HP:0006852Episodic generalized hypotonia2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0009062Infantile axial hypotonia2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0008935Generalized neonatal hypotonia2GABRG2 CL E G H256633069ORPHA16024087137164
HP:0001252HP:0006852Episodic generalized hypotonia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0009062Infantile axial hypotonia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0008935Generalized neonatal hypotonia2GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0001252HP:0006852Episodic generalized hypotonia2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0009062Infantile axial hypotonia2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0008935Generalized neonatal hypotonia2GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11914116606953
HP:0001252HP:0006852Episodic generalized hypotonia2GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0009062Infantile axial hypotonia2GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0008935Generalized neonatal hypotonia2GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM14134170305371
HP:0001252HP:0006852Episodic generalized hypotonia2GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0009062Infantile axial hypotonia2GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0008935Generalized neonatal hypotonia2GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0006852Episodic generalized hypotonia2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0009062Infantile axial hypotonia2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0008935Generalized neonatal hypotonia2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001252HP:0006852Episodic generalized hypotonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0009062Infantile axial hypotonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0008935Generalized neonatal hypotonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001252HP:0006852Episodic generalized hypotonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0009062Infantile axial hypotonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0008935Generalized neonatal hypotonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001252HP:0006852Episodic generalized hypotonia2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0009062Infantile axial hypotonia2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0008935Generalized neonatal hypotonia2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001252HP:0006852Episodic generalized hypotonia2GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0009062Infantile axial hypotonia2GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0008935Generalized neonatal hypotonia2GDF6 CL E G H39225565ORPHA14064221601147
HP:0001252HP:0006852Episodic generalized hypotonia2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0009062Infantile axial hypotonia2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0008935Generalized neonatal hypotonia2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001252HP:0006852Episodic generalized hypotonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0009062Infantile axial hypotonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0008935Generalized neonatal hypotonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001252HP:0006852Episodic generalized hypotonia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0009062Infantile axial hypotonia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0008935Generalized neonatal hypotonia2GMPPB CL E G H29925588ORPHA136422932615320
HP:0001252HP:0006852Episodic generalized hypotonia2GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0009062Infantile axial hypotonia2GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0008935Generalized neonatal hypotonia2GMPPB CL E G H29925363623ORPHA136422932615320
HP:0001252HP:0006852Episodic generalized hypotonia2GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0009062Infantile axial hypotonia2GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0008935Generalized neonatal hypotonia2GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM13144416602744
HP:0001252HP:0006852Episodic generalized hypotonia2GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0009062Infantile axial hypotonia2GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0008935Generalized neonatal hypotonia2GORAB CL E G H923442078ORPHA126325676607983
HP:0001252HP:0006852Episodic generalized hypotonia2GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0009062Infantile axial hypotonia2GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0008935Generalized neonatal hypotonia2GP1BB CL E G H2812567ORPHA14794440138720
HP:0001252HP:0006852Episodic generalized hypotonia2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0009062Infantile axial hypotonia2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0008935Generalized neonatal hypotonia2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0001252HP:0006852Episodic generalized hypotonia2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0009062Infantile axial hypotonia2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0008935Generalized neonatal hypotonia2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0001252HP:0006852Episodic generalized hypotonia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0009062Infantile axial hypotonia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0008935Generalized neonatal hypotonia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001252HP:0006852Episodic generalized hypotonia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0009062Infantile axial hypotonia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0008935Generalized neonatal hypotonia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001252HP:0006852Episodic generalized hypotonia2GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0009062Infantile axial hypotonia2GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0008935Generalized neonatal hypotonia2GUCY2D CL E G H300065ORPHA110484689600179
HP:0001252HP:0006852Episodic generalized hypotonia2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0009062Infantile axial hypotonia2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0008935Generalized neonatal hypotonia2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA14144696611499
HP:0001252HP:0006852Episodic generalized hypotonia2HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0009062Infantile axial hypotonia2HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0008935Generalized neonatal hypotonia2HACD1 CL E G H92002020ORPHA11599639610467
HP:0001252HP:0006852Episodic generalized hypotonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0009062Infantile axial hypotonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0008935Generalized neonatal hypotonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM122721033610876
HP:0001252HP:0006852Episodic generalized hypotonia2HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0009062Infantile axial hypotonia2HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0008935Generalized neonatal hypotonia2HADHA CL E G H3030746Apert like polydactyly syndromeORPHA17924801600890
HP:0001252HP:0006852Episodic generalized hypotonia2HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0009062Infantile axial hypotonia2HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0008935Generalized neonatal hypotonia2HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM17924801600890
HP:0001252HP:0006852Episodic generalized hypotonia2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0009062Infantile axial hypotonia2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0008935Generalized neonatal hypotonia2HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM17924801600890
HP:0001252HP:0006852Episodic generalized hypotonia2HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0009062Infantile axial hypotonia2HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0008935Generalized neonatal hypotonia2HADHB CL E G H3032746Apert like polydactyly syndromeORPHA13674803143450
HP:0001252HP:0006852Episodic generalized hypotonia2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0009062Infantile axial hypotonia2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0008935Generalized neonatal hypotonia2HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM13674803143450
HP:0001252HP:0006852Episodic generalized hypotonia2HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0009062Infantile axial hypotonia2HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0008935Generalized neonatal hypotonia2HBA1 CL E G H303998791ORPHA13944823141800
HP:0001252HP:0006852Episodic generalized hypotonia2HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0009062Infantile axial hypotonia2HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0008935Generalized neonatal hypotonia2HBA2 CL E G H304098791ORPHA13504824141850
HP:0001252HP:0006852Episodic generalized hypotonia2HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0009062Infantile axial hypotonia2HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0008935Generalized neonatal hypotonia2HDAC4 CL E G H97591001Branchial arch defectsORPHA152614063605314
HP:0001252HP:0006852Episodic generalized hypotonia2HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0009062Infantile axial hypotonia2HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0008935Generalized neonatal hypotonia2HESX1 CL E G H8820226307ORPHA11124877601802
HP:0001252HP:0006852Episodic generalized hypotonia2HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0009062Infantile axial hypotonia2HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0008935Generalized neonatal hypotonia2HIBCH CL E G H2627588639ORPHA12354908610690
HP:0001252HP:0006852Episodic generalized hypotonia2HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0009062Infantile axial hypotonia2HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0008935Generalized neonatal hypotonia2HIRA CL E G H7290567ORPHA14764916600237
HP:0001252HP:0006852Episodic generalized hypotonia2HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0009062Infantile axial hypotonia2HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0008935Generalized neonatal hypotonia2HLCS CL E G H314179242ORPHA18854976609018
HP:0001252HP:0006852Episodic generalized hypotonia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0009062Infantile axial hypotonia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0008935Generalized neonatal hypotonia2HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM18854976609018
HP:0001252HP:0006852Episodic generalized hypotonia2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0009062Infantile axial hypotonia2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0008935Generalized neonatal hypotonia2HNRNPU CL E G H3192238769ORPHA18825048602869
HP:0001252HP:0006852Episodic generalized hypotonia2HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0009062Infantile axial hypotonia2HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0008935Generalized neonatal hypotonia2HPD CL E G H32422118ORPHA12015147609695
HP:0001252HP:0006852Episodic generalized hypotonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0009062Infantile axial hypotonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0008935Generalized neonatal hypotonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001252HP:0006852Episodic generalized hypotonia2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0009062Infantile axial hypotonia2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0008935Generalized neonatal hypotonia2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001252HP:0006852Episodic generalized hypotonia2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0009062Infantile axial hypotonia2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0008935Generalized neonatal hypotonia2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001252HP:0006852Episodic generalized hypotonia2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0009062Infantile axial hypotonia2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0008935Generalized neonatal hypotonia2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001252HP:0006852Episodic generalized hypotonia2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0009062Infantile axial hypotonia2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0008935Generalized neonatal hypotonia2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA131426558610693
HP:0001252HP:0006852Episodic generalized hypotonia2IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0009062Infantile axial hypotonia2IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0008935Generalized neonatal hypotonia2IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM12395383147650
HP:0001252HP:0006852Episodic generalized hypotonia2IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0009062Infantile axial hypotonia2IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0008935Generalized neonatal hypotonia2IDUA CL E G H342593473ORPHA117885391252800
HP:0001252HP:0006852Episodic generalized hypotonia2IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0009062Infantile axial hypotonia2IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0008935Generalized neonatal hypotonia2IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM1117018873606951
HP:0001252HP:0006852Episodic generalized hypotonia2IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0009062Infantile axial hypotonia2IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0008935Generalized neonatal hypotonia2IFT140 CL E G H974265ORPHA1168629077614620
HP:0001252HP:0006852Episodic generalized hypotonia2IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0009062Infantile axial hypotonia2IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0008935Generalized neonatal hypotonia2IMPDH1 CL E G H361465ORPHA15426052146690
HP:0001252HP:0006852Episodic generalized hypotonia2INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0009062Infantile axial hypotonia2INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0008935Generalized neonatal hypotonia2INPP5E CL E G H56623220493ORPHA178221474613037
HP:0001252HP:0006852Episodic generalized hypotonia2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0009062Infantile axial hypotonia2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0008935Generalized neonatal hypotonia2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA178221474613037
HP:0001252HP:0006852Episodic generalized hypotonia2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0009062Infantile axial hypotonia2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0008935Generalized neonatal hypotonia2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001252HP:0006852Episodic generalized hypotonia2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0009062Infantile axial hypotonia2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0008935Generalized neonatal hypotonia2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001252HP:0006852Episodic generalized hypotonia2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0009062Infantile axial hypotonia2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0008935Generalized neonatal hypotonia2INPP5K CL E G H51763559ORPHA118733882607875
HP:0001252HP:0006852Episodic generalized hypotonia2INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0009062Infantile axial hypotonia2INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0008935Generalized neonatal hypotonia2INPPL1 CL E G H36362746Hoyeraal syndromeORPHA14676080600829
HP:0001252HP:0006852Episodic generalized hypotonia2INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0009062Infantile axial hypotonia2INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0008935Generalized neonatal hypotonia2INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM14676080600829
HP:0001252HP:0006852Episodic generalized hypotonia2IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0009062Infantile axial hypotonia2IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0008935Generalized neonatal hypotonia2IQCB1 CL E G H965765ORPHA149628949609237
HP:0001252HP:0006852Episodic generalized hypotonia2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0009062Infantile axial hypotonia2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0008935Generalized neonatal hypotonia2IQSEC2 CL E G H23096819ORPHA1114429059300522
HP:0001252HP:0006852Episodic generalized hypotonia2ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0009062Infantile axial hypotonia2ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0008935Generalized neonatal hypotonia2ISPD CL E G H729920899ORPHA173337276614631
HP:0001252HP:0006852Episodic generalized hypotonia2ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0009062Infantile axial hypotonia2ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0008935Generalized neonatal hypotonia2ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM13086139605025
HP:0001252HP:0006852Episodic generalized hypotonia2ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0009062Infantile axial hypotonia2ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0008935Generalized neonatal hypotonia2ITGA7 CL E G H36792020ORPHA18986143600536
HP:0001252HP:0006852Episodic generalized hypotonia2ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0009062Infantile axial hypotonia2ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0008935Generalized neonatal hypotonia2ITGB6 CL E G H36942850ORPHA11336161147558
HP:0001252HP:0006852Episodic generalized hypotonia2ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0009062Infantile axial hypotonia2ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0008935Generalized neonatal hypotonia2ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA115636180147265
HP:0001252HP:0006852Episodic generalized hypotonia2IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0009062Infantile axial hypotonia2IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0008935Generalized neonatal hypotonia2IYD CL E G H38943495716ORPHA18821071612025
HP:0001252HP:0006852Episodic generalized hypotonia2JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0009062Infantile axial hypotonia2JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0008935Generalized neonatal hypotonia2JMJD1C CL E G H221037567ORPHA1117812313604503
HP:0001252HP:0006852Episodic generalized hypotonia2KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0009062Infantile axial hypotonia2KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0008935Generalized neonatal hypotonia2KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM197219309607704
HP:0001252HP:0006852Episodic generalized hypotonia2KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0009062Infantile axial hypotonia2KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0008935Generalized neonatal hypotonia2KAT6B CL E G H23522648ORPHA1100317582605880
HP:0001252HP:0006852Episodic generalized hypotonia2KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0009062Infantile axial hypotonia2KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0008935Generalized neonatal hypotonia2KAT6B CL E G H235223047ORPHA1100317582605880
HP:0001252HP:0006852Episodic generalized hypotonia2KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0009062Infantile axial hypotonia2KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0008935Generalized neonatal hypotonia2KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM1100317582605880
HP:0001252HP:0006852Episodic generalized hypotonia2KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0009062Infantile axial hypotonia2KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNAB2 CL E G H85141606ORPHA11146229601142
HP:0001252HP:0006852Episodic generalized hypotonia2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0009062Infantile axial hypotonia2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001252HP:0006852Episodic generalized hypotonia2KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0009062Infantile axial hypotonia2KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNE5 CL E G H2363086818ORPHA12336241300328
HP:0001252HP:0006852Episodic generalized hypotonia2KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0009062Infantile axial hypotonia2KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM15666250603305
HP:0001252HP:0006852Episodic generalized hypotonia2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0009062Infantile axial hypotonia2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM15666250603305
HP:0001252HP:0006852Episodic generalized hypotonia2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0009062Infantile axial hypotonia2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13816256602208
HP:0001252HP:0006852Episodic generalized hypotonia2KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0009062Infantile axial hypotonia2KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNJ13 CL E G H376965ORPHA12356259603208
HP:0001252HP:0006852Episodic generalized hypotonia2KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0009062Infantile axial hypotonia2KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM11076283605874
HP:0001252HP:0006852Episodic generalized hypotonia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0009062Infantile axial hypotonia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001252HP:0006852Episodic generalized hypotonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0009062Infantile axial hypotonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001252HP:0006852Episodic generalized hypotonia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0009062Infantile axial hypotonia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001252HP:0006852Episodic generalized hypotonia2KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0009062Infantile axial hypotonia2KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0008935Generalized neonatal hypotonia2KDM6A CL E G H74032322ORPHA191612637300128
HP:0001252HP:0006852Episodic generalized hypotonia2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0009062Infantile axial hypotonia2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0008935Generalized neonatal hypotonia2KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM191612637300128
HP:0001252HP:0006852Episodic generalized hypotonia2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0009062Infantile axial hypotonia2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0008935Generalized neonatal hypotonia2KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM191612637300128
HP:0001252HP:0006852Episodic generalized hypotonia2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0009062Infantile axial hypotonia2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0008935Generalized neonatal hypotonia2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0006852Episodic generalized hypotonia2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0009062Infantile axial hypotonia2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0008935Generalized neonatal hypotonia2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1125319960610178
HP:0001252HP:0006852Episodic generalized hypotonia2KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0009062Infantile axial hypotonia2KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0008935Generalized neonatal hypotonia2KIF11 CL E G H38322526ORPHA17696388148760
HP:0001252HP:0006852Episodic generalized hypotonia2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0009062Infantile axial hypotonia2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0008935Generalized neonatal hypotonia2KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12622888601255
HP:0001252HP:0006852Episodic generalized hypotonia2KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0009062Infantile axial hypotonia2KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0008935Generalized neonatal hypotonia2KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0006852Episodic generalized hypotonia2KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0009062Infantile axial hypotonia2KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0008935Generalized neonatal hypotonia2KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM15136391603213
HP:0001252HP:0006852Episodic generalized hypotonia2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0009062Infantile axial hypotonia2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0008935Generalized neonatal hypotonia2KMT2A CL E G H4297319182ORPHA120737132159555
HP:0001252HP:0006852Episodic generalized hypotonia2KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0009062Infantile axial hypotonia2KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0008935Generalized neonatal hypotonia2KMT2D CL E G H80852322ORPHA143237133602113
HP:0001252HP:0006852Episodic generalized hypotonia2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0009062Infantile axial hypotonia2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0008935Generalized neonatal hypotonia2KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM143237133602113
HP:0001252HP:0006852Episodic generalized hypotonia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0009062Infantile axial hypotonia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0008935Generalized neonatal hypotonia2KRAS CL E G H3845144ORPHA14806407190070
HP:0001252HP:0006852Episodic generalized hypotonia2KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0009062Infantile axial hypotonia2KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0008935Generalized neonatal hypotonia2KRAS CL E G H3845648ORPHA14806407190070
HP:0001252HP:0006852Episodic generalized hypotonia2KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0009062Infantile axial hypotonia2KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0008935Generalized neonatal hypotonia2KRAS CL E G H38453339ORPHA14806407190070
HP:0001252HP:0006852Episodic generalized hypotonia2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0009062Infantile axial hypotonia2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0008935Generalized neonatal hypotonia2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14806407190070
HP:0001252HP:0006852Episodic generalized hypotonia2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0009062Infantile axial hypotonia2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0008935Generalized neonatal hypotonia2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001252HP:0006852Episodic generalized hypotonia2L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0009062Infantile axial hypotonia2L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0008935Generalized neonatal hypotonia2L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0001252HP:0006852Episodic generalized hypotonia2LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0009062Infantile axial hypotonia2LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0008935Generalized neonatal hypotonia2LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM141796482156225
HP:0001252HP:0006852Episodic generalized hypotonia2LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0009062Infantile axial hypotonia2LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0008935Generalized neonatal hypotonia2LAMB2 CL E G H391398915ORPHA19156487150325
HP:0001252HP:0006852Episodic generalized hypotonia2LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0009062Infantile axial hypotonia2LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0008935Generalized neonatal hypotonia2LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM19156487150325
HP:0001252HP:0006852Episodic generalized hypotonia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0009062Infantile axial hypotonia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0008935Generalized neonatal hypotonia2LARGE1 CL E G H9215588ORPHA17866511603590
HP:0001252HP:0006852Episodic generalized hypotonia2LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0009062Infantile axial hypotonia2LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0008935Generalized neonatal hypotonia2LARGE1 CL E G H9215899ORPHA17866511603590
HP:0001252HP:0006852Episodic generalized hypotonia2LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0009062Infantile axial hypotonia2LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0008935Generalized neonatal hypotonia2LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM17866511603590
HP:0001252HP:0006852Episodic generalized hypotonia2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0009062Infantile axial hypotonia2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0008935Generalized neonatal hypotonia2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0001252HP:0006852Episodic generalized hypotonia2LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0009062Infantile axial hypotonia2LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0008935Generalized neonatal hypotonia2LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0001252HP:0006852Episodic generalized hypotonia2LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0009062Infantile axial hypotonia2LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0008935Generalized neonatal hypotonia2LCA5 CL E G H16769165ORPHA168631923611408
HP:0001252HP:0006852Episodic generalized hypotonia2LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0009062Infantile axial hypotonia2LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0008935Generalized neonatal hypotonia2LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA13676556604407
HP:0001252HP:0006852Episodic generalized hypotonia2LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0009062Infantile axial hypotonia2LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0008935Generalized neonatal hypotonia2LGI4 CL E G H1631752680ORPHA110618712608303
HP:0001252HP:0006852Episodic generalized hypotonia2LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0009062Infantile axial hypotonia2LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0008935Generalized neonatal hypotonia2LHX3 CL E G H8022226307ORPHA14806595600577
HP:0001252HP:0006852Episodic generalized hypotonia2LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0009062Infantile axial hypotonia2LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0008935Generalized neonatal hypotonia2LHX4 CL E G H89884226307ORPHA117221734602146
HP:0001252HP:0006852Episodic generalized hypotonia2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0009062Infantile axial hypotonia2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0008935Generalized neonatal hypotonia2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM19456597151443
HP:0001252HP:0006852Episodic generalized hypotonia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0009062Infantile axial hypotonia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0008935Generalized neonatal hypotonia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001252HP:0006852Episodic generalized hypotonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0009062Infantile axial hypotonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0008935Generalized neonatal hypotonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001252HP:0006852Episodic generalized hypotonia2LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0009062Infantile axial hypotonia2LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0008935Generalized neonatal hypotonia2LMBRD1 CL E G H5578879284ORPHA127623038612625
HP:0001252HP:0006852Episodic generalized hypotonia2LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0009062Infantile axial hypotonia2LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0008935Generalized neonatal hypotonia2LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001252HP:0006852Episodic generalized hypotonia2LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0009062Infantile axial hypotonia2LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0008935Generalized neonatal hypotonia2LMNA CL E G H4000157973ORPHA118146636150330
HP:0001252HP:0006852Episodic generalized hypotonia2LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0009062Infantile axial hypotonia2LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0008935Generalized neonatal hypotonia2LONP1 CL E G H93611458ORPHA17499479605490
HP:0001252HP:0006852Episodic generalized hypotonia2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0009062Infantile axial hypotonia2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0008935Generalized neonatal hypotonia2LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM17499479605490
HP:0001252HP:0006852Episodic generalized hypotonia2LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0009062Infantile axial hypotonia2LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0008935Generalized neonatal hypotonia2LRAT CL E G H922765ORPHA12426685604863
HP:0001252HP:0006852Episodic generalized hypotonia2LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0009062Infantile axial hypotonia2LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0008935Generalized neonatal hypotonia2LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM118196697603506
HP:0001252HP:0006852Episodic generalized hypotonia2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0009062Infantile axial hypotonia2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0008935Generalized neonatal hypotonia2LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1147915714607544
HP:0001252HP:0006852Episodic generalized hypotonia2LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0009062Infantile axial hypotonia2LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0008935Generalized neonatal hypotonia2LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1536719246530
HP:0001252HP:0006852Episodic generalized hypotonia2LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0009062Infantile axial hypotonia2LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0008935Generalized neonatal hypotonia2LZTR1 CL E G H8216648ORPHA128596742600574
HP:0001252HP:0006852Episodic generalized hypotonia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0009062Infantile axial hypotonia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0008935Generalized neonatal hypotonia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001252HP:0006852Episodic generalized hypotonia2MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0009062Infantile axial hypotonia2MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0008935Generalized neonatal hypotonia2MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001252HP:0006852Episodic generalized hypotonia2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0009062Infantile axial hypotonia2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0008935Generalized neonatal hypotonia2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA14936840176872
HP:0001252HP:0006852Episodic generalized hypotonia2MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0009062Infantile axial hypotonia2MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0008935Generalized neonatal hypotonia2MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM17206842601263
HP:0001252HP:0006852Episodic generalized hypotonia2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0009062Infantile axial hypotonia2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0008935Generalized neonatal hypotonia2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA17206842601263
HP:0001252HP:0006852Episodic generalized hypotonia2MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0009062Infantile axial hypotonia2MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0008935Generalized neonatal hypotonia2MAP3K20 CL E G H517762020ORPHA136817797609479
HP:0001252HP:0006852Episodic generalized hypotonia2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0009062Infantile axial hypotonia2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0008935Generalized neonatal hypotonia2MBD5 CL E G H55777228402ORPHA1137520444611472
HP:0001252HP:0006852Episodic generalized hypotonia2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0009062Infantile axial hypotonia2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0008935Generalized neonatal hypotonia2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001252HP:0006852Episodic generalized hypotonia2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0009062Infantile axial hypotonia2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0008935Generalized neonatal hypotonia2MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA17206936609010
HP:0001252HP:0006852Episodic generalized hypotonia2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0009062Infantile axial hypotonia2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0008935Generalized neonatal hypotonia2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001252HP:0006852Episodic generalized hypotonia2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0009062Infantile axial hypotonia2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0008935Generalized neonatal hypotonia2MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA16446937609014
HP:0001252HP:0006852Episodic generalized hypotonia2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0009062Infantile axial hypotonia2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0008935Generalized neonatal hypotonia2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001252HP:0006852Episodic generalized hypotonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0009062Infantile axial hypotonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0008935Generalized neonatal hypotonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001252HP:0006852Episodic generalized hypotonia2MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0009062Infantile axial hypotonia2MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0008935Generalized neonatal hypotonia2MED12 CL E G H9968776ORPHA1157311957300188
HP:0001252HP:0006852Episodic generalized hypotonia2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0009062Infantile axial hypotonia2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0008935Generalized neonatal hypotonia2MEF2C CL E G H4208228384ORPHA15156996600662
HP:0001252HP:0006852Episodic generalized hypotonia2MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0009062Infantile axial hypotonia2MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0008935Generalized neonatal hypotonia2MKS1 CL E G H54903220493ORPHA18397121609883
HP:0001252HP:0006852Episodic generalized hypotonia2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0009062Infantile axial hypotonia2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0008935Generalized neonatal hypotonia2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA18397121609883
HP:0001252HP:0006852Episodic generalized hypotonia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0009062Infantile axial hypotonia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0008935Generalized neonatal hypotonia2MLH1 CL E G H4292144ORPHA151227127120436
HP:0001252HP:0006852Episodic generalized hypotonia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0009062Infantile axial hypotonia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0008935Generalized neonatal hypotonia2MLH3 CL E G H27030144ORPHA122107128604395
HP:0001252HP:0006852Episodic generalized hypotonia2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0009062Infantile axial hypotonia2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0008935Generalized neonatal hypotonia2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001252HP:0006852Episodic generalized hypotonia2MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0009062Infantile axial hypotonia2MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0008935Generalized neonatal hypotonia2MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001252HP:0006852Episodic generalized hypotonia2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0009062Infantile axial hypotonia2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0008935Generalized neonatal hypotonia2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001252HP:0006852Episodic generalized hypotonia2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0009062Infantile axial hypotonia2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0008935Generalized neonatal hypotonia2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001252HP:0006852Episodic generalized hypotonia2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0009062Infantile axial hypotonia2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0008935Generalized neonatal hypotonia2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001252HP:0006852Episodic generalized hypotonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0009062Infantile axial hypotonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0008935Generalized neonatal hypotonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001252HP:0006852Episodic generalized hypotonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0009062Infantile axial hypotonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0008935Generalized neonatal hypotonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001252HP:0006852Episodic generalized hypotonia2MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0009062Infantile axial hypotonia2MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0008935Generalized neonatal hypotonia2MMUT CL E G H4594289916ORPHA18967526609058
HP:0001252HP:0006852Episodic generalized hypotonia2MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0009062Infantile axial hypotonia2MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0008935Generalized neonatal hypotonia2MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM18967526609058
HP:0001252HP:0006852Episodic generalized hypotonia2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0009062Infantile axial hypotonia2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0008935Generalized neonatal hypotonia2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM147324862601336
HP:0001252HP:0006852Episodic generalized hypotonia2MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0009062Infantile axial hypotonia2MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0008935Generalized neonatal hypotonia2MPDU1 CL E G H952679323ORPHA11257207604041
HP:0001252HP:0006852Episodic generalized hypotonia2MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0009062Infantile axial hypotonia2MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0008935Generalized neonatal hypotonia2MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001252HP:0006852Episodic generalized hypotonia2MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0009062Infantile axial hypotonia2MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0008935Generalized neonatal hypotonia2MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0001252HP:0006852Episodic generalized hypotonia2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0009062Infantile axial hypotonia2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0008935Generalized neonatal hypotonia2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001252HP:0006852Episodic generalized hypotonia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0009062Infantile axial hypotonia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0008935Generalized neonatal hypotonia2MSH2 CL E G H4436144ORPHA168567325609309
HP:0001252HP:0006852Episodic generalized hypotonia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0009062Infantile axial hypotonia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0008935Generalized neonatal hypotonia2MSH6 CL E G H2956144ORPHA184387329600678
HP:0001252HP:0006852Episodic generalized hypotonia2MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0009062Infantile axial hypotonia2MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0009062Infantile axial hypotonia2MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0009062Infantile axial hypotonia2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0009062Infantile axial hypotonia2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0009062Infantile axial hypotonia2MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0006852Episodic generalized hypotonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0009062Infantile axial hypotonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0008935Generalized neonatal hypotonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001252HP:0006852Episodic generalized hypotonia2MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0009062Infantile axial hypotonia2MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0008935Generalized neonatal hypotonia2MTM1 CL E G H4534596Albright like syndromeORPHA18077448300415
HP:0001252HP:0006852Episodic generalized hypotonia2MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0009062Infantile axial hypotonia2MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0008935Generalized neonatal hypotonia2MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA18727473602568
HP:0001252HP:0006852Episodic generalized hypotonia2MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0009062Infantile axial hypotonia2MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0008935Generalized neonatal hypotonia2MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM18727473602568
HP:0001252HP:0006852Episodic generalized hypotonia2MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0009062Infantile axial hypotonia2MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0008935Generalized neonatal hypotonia2MTTP CL E G H454714Bilateral squintCN228276ORPHA19257467157147
HP:0001252HP:0006852Episodic generalized hypotonia2MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0009062Infantile axial hypotonia2MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0008935Generalized neonatal hypotonia2MVK CL E G H459829ORPHA15707530251170
HP:0001252HP:0006852Episodic generalized hypotonia2MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0009062Infantile axial hypotonia2MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0008935Generalized neonatal hypotonia2MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM15707530251170
HP:0001252HP:0006852Episodic generalized hypotonia2MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0009062Infantile axial hypotonia2MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0008935Generalized neonatal hypotonia2MYL2 CL E G H46332020ORPHA14967583160781
HP:0001252HP:0006852Episodic generalized hypotonia2MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0009062Infantile axial hypotonia2MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0008935Generalized neonatal hypotonia2MYMK CL E G H3898271358ORPHA18633778615345
HP:0001252HP:0006852Episodic generalized hypotonia2MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0009062Infantile axial hypotonia2MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0008935Generalized neonatal hypotonia2MYO5A CL E G H464433445ORPHA13377602160777
HP:0001252HP:0006852Episodic generalized hypotonia2MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0009062Infantile axial hypotonia2MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0008935Generalized neonatal hypotonia2MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM13377602160777
HP:0001252HP:0006852Episodic generalized hypotonia2NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0009062Infantile axial hypotonia2NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0008935Generalized neonatal hypotonia2NAGA CL E G H466879279ORPHA12307631104170
HP:0001252HP:0006852Episodic generalized hypotonia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0009062Infantile axial hypotonia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0008935Generalized neonatal hypotonia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001252HP:0006852Episodic generalized hypotonia2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0009062Infantile axial hypotonia2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0008935Generalized neonatal hypotonia2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM118019237605202
HP:0001252HP:0006852Episodic generalized hypotonia2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0009062Infantile axial hypotonia2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0008935Generalized neonatal hypotonia2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1209515625608025
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0009062Infantile axial hypotonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0009062Infantile axial hypotonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0009062Infantile axial hypotonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0009062Infantile axial hypotonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0009062Infantile axial hypotonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0009062Infantile axial hypotonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0009062Infantile axial hypotonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0009062Infantile axial hypotonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0009062Infantile axial hypotonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0009062Infantile axial hypotonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0009062Infantile axial hypotonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001252HP:0006852Episodic generalized hypotonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0009062Infantile axial hypotonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0008935Generalized neonatal hypotonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001252HP:0006852Episodic generalized hypotonia2NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0009062Infantile axial hypotonia2NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0008935Generalized neonatal hypotonia2NELFA CL E G H7469280Halal Setton Wang syndromeORPHA120212768606026
HP:0001252HP:0006852Episodic generalized hypotonia2NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0009062Infantile axial hypotonia2NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0008935Generalized neonatal hypotonia2NEU1 CL E G H4758812ORPHA11857758608272
HP:0001252HP:0006852Episodic generalized hypotonia2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0009062Infantile axial hypotonia2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0008935Generalized neonatal hypotonia2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001252HP:0006852Episodic generalized hypotonia2NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0009062Infantile axial hypotonia2NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0008935Generalized neonatal hypotonia2NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM13487788164005
HP:0001252HP:0006852Episodic generalized hypotonia2NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0009062Infantile axial hypotonia2NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0008935Generalized neonatal hypotonia2NKX2-1 CL E G H708095713ORPHA131711825600635
HP:0001252HP:0006852Episodic generalized hypotonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0009062Infantile axial hypotonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0008935Generalized neonatal hypotonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001252HP:0006852Episodic generalized hypotonia2NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0009062Infantile axial hypotonia2NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0008935Generalized neonatal hypotonia2NKX2-5 CL E G H148295712ORPHA15432488600584
HP:0001252HP:0006852Episodic generalized hypotonia2NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0009062Infantile axial hypotonia2NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0008935Generalized neonatal hypotonia2NKX2-5 CL E G H148295713ORPHA15432488600584
HP:0001252HP:0006852Episodic generalized hypotonia2NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0009062Infantile axial hypotonia2NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0008935Generalized neonatal hypotonia2NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0001252HP:0006852Episodic generalized hypotonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0009062Infantile axial hypotonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0008935Generalized neonatal hypotonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001252HP:0006852Episodic generalized hypotonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0009062Infantile axial hypotonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0008935Generalized neonatal hypotonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001252HP:0006852Episodic generalized hypotonia2NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0009062Infantile axial hypotonia2NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0008935Generalized neonatal hypotonia2NPHP1 CL E G H4867220497ORPHA18157905607100
HP:0001252HP:0006852Episodic generalized hypotonia2NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0009062Infantile axial hypotonia2NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0008935Generalized neonatal hypotonia2NRAS CL E G H4893648ORPHA12817989164790
HP:0001252HP:0006852Episodic generalized hypotonia2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0009062Infantile axial hypotonia2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0008935Generalized neonatal hypotonia2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001252HP:0006852Episodic generalized hypotonia2NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0009062Infantile axial hypotonia2NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0008935Generalized neonatal hypotonia2NSD1 CL E G H64324821ORPHA1173414234606681
HP:0001252HP:0006852Episodic generalized hypotonia2NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0009062Infantile axial hypotonia2NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0008935Generalized neonatal hypotonia2NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA153812766602952
HP:0001252HP:0006852Episodic generalized hypotonia2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0009062Infantile axial hypotonia2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0008935Generalized neonatal hypotonia2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM110202567300170
HP:0001252HP:0006852Episodic generalized hypotonia2OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0009062Infantile axial hypotonia2OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0008935Generalized neonatal hypotonia2OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11718124613022
HP:0001252HP:0006852Episodic generalized hypotonia2OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0009062Infantile axial hypotonia2OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0008935Generalized neonatal hypotonia2OPHN1 CL E G H4983137831ORPHA14758148300127
HP:0001252HP:0006852Episodic generalized hypotonia2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0009062Infantile axial hypotonia2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0008935Generalized neonatal hypotonia2OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM14758148300127
HP:0001252HP:0006852Episodic generalized hypotonia2ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0009062Infantile axial hypotonia2ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0008935Generalized neonatal hypotonia2ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM132625896610277
HP:0001252HP:0006852Episodic generalized hypotonia2P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0009062Infantile axial hypotonia2P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0008935Generalized neonatal hypotonia2P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA12428548176790
HP:0001252HP:0006852Episodic generalized hypotonia2PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0009062Infantile axial hypotonia2PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0008935Generalized neonatal hypotonia2PAFAH1B1 CL E G H5048217385ORPHA15388574601545
HP:0001252HP:0006852Episodic generalized hypotonia2PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0009062Infantile axial hypotonia2PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0008935Generalized neonatal hypotonia2PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18058620607108
HP:0001252HP:0006852Episodic generalized hypotonia2PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0009062Infantile axial hypotonia2PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0008935Generalized neonatal hypotonia2PAX8 CL E G H784995712ORPHA12168622167415
HP:0001252HP:0006852Episodic generalized hypotonia2PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0009062Infantile axial hypotonia2PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0008935Generalized neonatal hypotonia2PAX8 CL E G H784995713ORPHA12168622167415
HP:0001252HP:0006852Episodic generalized hypotonia2PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0009062Infantile axial hypotonia2PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0008935Generalized neonatal hypotonia2PAX8 CL E G H784995720ORPHA12168622167415
HP:0001252HP:0006852Episodic generalized hypotonia2PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0009062Infantile axial hypotonia2PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0008935Generalized neonatal hypotonia2PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM12168622167415
HP:0001252HP:0006852Episodic generalized hypotonia2PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0009062Infantile axial hypotonia2PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0008935Generalized neonatal hypotonia2PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM111018636608786
HP:0001252HP:0006852Episodic generalized hypotonia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0009062Infantile axial hypotonia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0008935Generalized neonatal hypotonia2PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1918646126090
HP:0001252HP:0006852Episodic generalized hypotonia2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0009062Infantile axial hypotonia2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0008935Generalized neonatal hypotonia2PCDH19 CL E G H5752633069ORPHA1129814270300460
HP:0001252HP:0006852Episodic generalized hypotonia2PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0009062Infantile axial hypotonia2PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0008935Generalized neonatal hypotonia2PCYT1A CL E G H513065ORPHA13588754123695
HP:0001252HP:0006852Episodic generalized hypotonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0009062Infantile axial hypotonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0008935Generalized neonatal hypotonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001252HP:0006852Episodic generalized hypotonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0009062Infantile axial hypotonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0008935Generalized neonatal hypotonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001252HP:0006852Episodic generalized hypotonia2PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0009062Infantile axial hypotonia2PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0008935Generalized neonatal hypotonia2PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11859279605993
HP:0001252HP:0006852Episodic generalized hypotonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0009062Infantile axial hypotonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0008935Generalized neonatal hypotonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001252HP:0006852Episodic generalized hypotonia2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0009062Infantile axial hypotonia2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0008935Generalized neonatal hypotonia2PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001252HP:0006852Episodic generalized hypotonia2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0009062Infantile axial hypotonia2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX1 CL E G H5189772ORPHA115378850602136
HP:0001252HP:0006852Episodic generalized hypotonia2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0009062Infantile axial hypotonia2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001252HP:0006852Episodic generalized hypotonia2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0009062Infantile axial hypotonia2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM115378850602136
HP:0001252HP:0006852Episodic generalized hypotonia2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0009062Infantile axial hypotonia2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX10 CL E G H5192772ORPHA18038851602859
HP:0001252HP:0006852Episodic generalized hypotonia2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0009062Infantile axial hypotonia2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001252HP:0006852Episodic generalized hypotonia2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0009062Infantile axial hypotonia2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX11B CL E G H8799772ORPHA14158853603867
HP:0001252HP:0006852Episodic generalized hypotonia2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0009062Infantile axial hypotonia2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001252HP:0006852Episodic generalized hypotonia2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0009062Infantile axial hypotonia2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX12 CL E G H5193772ORPHA14598854601758
HP:0001252HP:0006852Episodic generalized hypotonia2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0009062Infantile axial hypotonia2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM14598854601758
HP:0001252HP:0006852Episodic generalized hypotonia2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0009062Infantile axial hypotonia2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001252HP:0006852Episodic generalized hypotonia2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0009062Infantile axial hypotonia2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX13 CL E G H5194772ORPHA14978855601789
HP:0001252HP:0006852Episodic generalized hypotonia2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0009062Infantile axial hypotonia2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001252HP:0006852Episodic generalized hypotonia2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0009062Infantile axial hypotonia2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX14 CL E G H5195772ORPHA14748856601791
HP:0001252HP:0006852Episodic generalized hypotonia2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0009062Infantile axial hypotonia2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001252HP:0006852Episodic generalized hypotonia2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0009062Infantile axial hypotonia2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX16 CL E G H9409772ORPHA14708857603360
HP:0001252HP:0006852Episodic generalized hypotonia2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0009062Infantile axial hypotonia2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001252HP:0006852Episodic generalized hypotonia2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0009062Infantile axial hypotonia2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX19 CL E G H5824772ORPHA13799713600279
HP:0001252HP:0006852Episodic generalized hypotonia2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0009062Infantile axial hypotonia2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001252HP:0006852Episodic generalized hypotonia2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0009062Infantile axial hypotonia2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX2 CL E G H5828772ORPHA14639717170993
HP:0001252HP:0006852Episodic generalized hypotonia2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0009062Infantile axial hypotonia2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001252HP:0006852Episodic generalized hypotonia2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0009062Infantile axial hypotonia2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX26 CL E G H55670772ORPHA152222965608666
HP:0001252HP:0006852Episodic generalized hypotonia2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0009062Infantile axial hypotonia2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001252HP:0006852Episodic generalized hypotonia2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0009062Infantile axial hypotonia2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX3 CL E G H8504772ORPHA13588858603164
HP:0001252HP:0006852Episodic generalized hypotonia2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0009062Infantile axial hypotonia2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001252HP:0006852Episodic generalized hypotonia2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0009062Infantile axial hypotonia2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX5 CL E G H5830772ORPHA18589719600414
HP:0001252HP:0006852Episodic generalized hypotonia2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0009062Infantile axial hypotonia2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001252HP:0006852Episodic generalized hypotonia2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0009062Infantile axial hypotonia2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM18589719600414
HP:0001252HP:0006852Episodic generalized hypotonia2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0009062Infantile axial hypotonia2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX6 CL E G H5190772ORPHA114588859601498
HP:0001252HP:0006852Episodic generalized hypotonia2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0009062Infantile axial hypotonia2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001252HP:0006852Episodic generalized hypotonia2PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0009062Infantile axial hypotonia2PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0008935Generalized neonatal hypotonia2PEX7 CL E G H5191773ORPHA15508860601757
HP:0001252HP:0006852Episodic generalized hypotonia2PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0009062Infantile axial hypotonia2PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0008935Generalized neonatal hypotonia2PHF6 CL E G H84295127ORPHA132218145300414
HP:0001252HP:0006852Episodic generalized hypotonia2PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0009062Infantile axial hypotonia2PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0008935Generalized neonatal hypotonia2PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM132218145300414
HP:0001252HP:0006852Episodic generalized hypotonia2PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0009062Infantile axial hypotonia2PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0008935Generalized neonatal hypotonia2PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM12168931172471
HP:0001252HP:0006852Episodic generalized hypotonia2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0009062Infantile axial hypotonia2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0008935Generalized neonatal hypotonia2PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA19809143603851
HP:0001252HP:0006852Episodic generalized hypotonia2PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0009062Infantile axial hypotonia2PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0008935Generalized neonatal hypotonia2PHYH CL E G H5264773ORPHA13828940602026
HP:0001252HP:0006852Episodic generalized hypotonia2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0009062Infantile axial hypotonia2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0008935Generalized neonatal hypotonia2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA118023352607532
HP:0001252HP:0006852Episodic generalized hypotonia2PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0009062Infantile axial hypotonia2PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0008935Generalized neonatal hypotonia2PIEZO2 CL E G H638952461ORPHA197826270613629
HP:0001252HP:0006852Episodic generalized hypotonia2PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0009062Infantile axial hypotonia2PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0008935Generalized neonatal hypotonia2PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM197826270613629
HP:0001252HP:0006852Episodic generalized hypotonia2PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0009062Infantile axial hypotonia2PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0008935Generalized neonatal hypotonia2PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11568966605947
HP:0001252HP:0006852Episodic generalized hypotonia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0009062Infantile axial hypotonia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0008935Generalized neonatal hypotonia2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0001252HP:0006852Episodic generalized hypotonia2PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0009062Infantile axial hypotonia2PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0008935Generalized neonatal hypotonia2PIK3CA CL E G H529060040ORPHA111598975171834
HP:0001252HP:0006852Episodic generalized hypotonia2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0009062Infantile axial hypotonia2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0008935Generalized neonatal hypotonia2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0001252HP:0006852Episodic generalized hypotonia2PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0009062Infantile axial hypotonia2PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0008935Generalized neonatal hypotonia2PLA2G6 CL E G H839835069ORPHA17759039603604
HP:0001252HP:0006852Episodic generalized hypotonia2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0009062Infantile axial hypotonia2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0008935Generalized neonatal hypotonia2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001252HP:0006852Episodic generalized hypotonia2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0009062Infantile axial hypotonia2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0008935Generalized neonatal hypotonia2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0001252HP:0006852Episodic generalized hypotonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0009062Infantile axial hypotonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0008935Generalized neonatal hypotonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001252HP:0006852Episodic generalized hypotonia2PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0009062Infantile axial hypotonia2PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0008935Generalized neonatal hypotonia2PLPBP CL E G H112123006ORPHA12429457604436
HP:0001252HP:0006852Episodic generalized hypotonia2PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0009062Infantile axial hypotonia2PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0008935Generalized neonatal hypotonia2PLXND1 CL E G H23129570ORPHA12149107604282
HP:0001252HP:0006852Episodic generalized hypotonia2PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0009062Infantile axial hypotonia2PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0008935Generalized neonatal hypotonia2PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001252HP:0006852Episodic generalized hypotonia2PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0009062Infantile axial hypotonia2PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0008935Generalized neonatal hypotonia2PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0001252HP:0006852Episodic generalized hypotonia2PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0009062Infantile axial hypotonia2PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0008935Generalized neonatal hypotonia2PMPCA CL E G H232031170ORPHA120518667613036
HP:0001252HP:0006852Episodic generalized hypotonia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0009062Infantile axial hypotonia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0008935Generalized neonatal hypotonia2PMS1 CL E G H5378144ORPHA11259121600258
HP:0001252HP:0006852Episodic generalized hypotonia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0009062Infantile axial hypotonia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0008935Generalized neonatal hypotonia2PMS2 CL E G H5395144ORPHA147199122600259
HP:0001252HP:0006852Episodic generalized hypotonia2PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0009062Infantile axial hypotonia2PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0008935Generalized neonatal hypotonia2PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12587892164050
HP:0001252HP:0006852Episodic generalized hypotonia2PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0009062Infantile axial hypotonia2PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0008935Generalized neonatal hypotonia2PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0001252HP:0006852Episodic generalized hypotonia2POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0009062Infantile axial hypotonia2POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0008935Generalized neonatal hypotonia2POLG CL E G H5428726ORPHA123249179174763
HP:0001252HP:0006852Episodic generalized hypotonia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0009062Infantile axial hypotonia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0008935Generalized neonatal hypotonia2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001252HP:0006852Episodic generalized hypotonia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0009062Infantile axial hypotonia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0008935Generalized neonatal hypotonia2POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0001252HP:0006852Episodic generalized hypotonia2POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0009062Infantile axial hypotonia2POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0008935Generalized neonatal hypotonia2POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0001252HP:0006852Episodic generalized hypotonia2POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0009062Infantile axial hypotonia2POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0008935Generalized neonatal hypotonia2POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0001252HP:0006852Episodic generalized hypotonia2POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0009062Infantile axial hypotonia2POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0008935Generalized neonatal hypotonia2POMK CL E G H84197899ORPHA130726267615247
HP:0001252HP:0006852Episodic generalized hypotonia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0009062Infantile axial hypotonia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0008935Generalized neonatal hypotonia2POMT1 CL E G H10585588ORPHA19069202607423
HP:0001252HP:0006852Episodic generalized hypotonia2POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0009062Infantile axial hypotonia2POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0008935Generalized neonatal hypotonia2POMT1 CL E G H10585899ORPHA19069202607423
HP:0001252HP:0006852Episodic generalized hypotonia2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0009062Infantile axial hypotonia2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0008935Generalized neonatal hypotonia2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0001252HP:0006852Episodic generalized hypotonia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0009062Infantile axial hypotonia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0008935Generalized neonatal hypotonia2POMT2 CL E G H29954588ORPHA193619743607439
HP:0001252HP:0006852Episodic generalized hypotonia2POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0009062Infantile axial hypotonia2POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0008935Generalized neonatal hypotonia2POMT2 CL E G H29954899ORPHA193619743607439
HP:0001252HP:0006852Episodic generalized hypotonia2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0009062Infantile axial hypotonia2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0008935Generalized neonatal hypotonia2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0001252HP:0006852Episodic generalized hypotonia2POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0009062Infantile axial hypotonia2POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0008935Generalized neonatal hypotonia2POU1F1 CL E G H5449226307ORPHA11049210173110
HP:0001252HP:0006852Episodic generalized hypotonia2POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0009062Infantile axial hypotonia2POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0008935Generalized neonatal hypotonia2POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM11049210173110
HP:0001252HP:0006852Episodic generalized hypotonia2PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0009062Infantile axial hypotonia2PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0008935Generalized neonatal hypotonia2PPM1B CL E G H5495163693ORPHA1459276603770
HP:0001252HP:0006852Episodic generalized hypotonia2PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0009062Infantile axial hypotonia2PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0008935Generalized neonatal hypotonia2PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0001252HP:0006852Episodic generalized hypotonia2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0009062Infantile axial hypotonia2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0008935Generalized neonatal hypotonia2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001252HP:0006852Episodic generalized hypotonia2PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0009062Infantile axial hypotonia2PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0008935Generalized neonatal hypotonia2PRDM16 CL E G H639761606ORPHA1127214000605557
HP:0001252HP:0006852Episodic generalized hypotonia2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0009062Infantile axial hypotonia2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0008935Generalized neonatal hypotonia2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001252HP:0006852Episodic generalized hypotonia2PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0009062Infantile axial hypotonia2PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0008935Generalized neonatal hypotonia2PREPL CL E G H9581163690ORPHA170830228609557
HP:0001252HP:0006852Episodic generalized hypotonia2PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0009062Infantile axial hypotonia2PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0008935Generalized neonatal hypotonia2PREPL CL E G H9581163693ORPHA170830228609557
HP:0001252HP:0006852Episodic generalized hypotonia2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0009062Infantile axial hypotonia2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0008935Generalized neonatal hypotonia2PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM17789453606810
HP:0001252HP:0006852Episodic generalized hypotonia2PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0009062Infantile axial hypotonia2PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0008935Generalized neonatal hypotonia2PROP1 CL E G H5626226307ORPHA12619455601538
HP:0001252HP:0006852Episodic generalized hypotonia2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0009062Infantile axial hypotonia2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0008935Generalized neonatal hypotonia2PRPS1 CL E G H56311187Cerebellar agenesisORPHA14159462311850
HP:0001252HP:0006852Episodic generalized hypotonia2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0009062Infantile axial hypotonia2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0008935Generalized neonatal hypotonia2PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM14159462311850
HP:0001252HP:0006852Episodic generalized hypotonia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0009062Infantile axial hypotonia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0008935Generalized neonatal hypotonia2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001252HP:0006852Episodic generalized hypotonia2PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0009062Infantile axial hypotonia2PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0008935Generalized neonatal hypotonia2PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0001252HP:0006852Episodic generalized hypotonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0009062Infantile axial hypotonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0008935Generalized neonatal hypotonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001252HP:0006852Episodic generalized hypotonia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0009062Infantile axial hypotonia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0008935Generalized neonatal hypotonia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001252HP:0006852Episodic generalized hypotonia2PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0009062Infantile axial hypotonia2PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0008935Generalized neonatal hypotonia2PTCH1 CL E G H572777301ORPHA144879585601309
HP:0001252HP:0006852Episodic generalized hypotonia2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0009062Infantile axial hypotonia2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0008935Generalized neonatal hypotonia2PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11909587612792
HP:0001252HP:0006852Episodic generalized hypotonia2PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0009062Infantile axial hypotonia2PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0008935Generalized neonatal hypotonia2PTPN11 CL E G H5781648ORPHA18549644176876
HP:0001252HP:0006852Episodic generalized hypotonia2PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0009062Infantile axial hypotonia2PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0008935Generalized neonatal hypotonia2PTS CL E G H580513Brain malformationC0266449ORPHA12639689612719
HP:0001252HP:0006852Episodic generalized hypotonia2PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0009062Infantile axial hypotonia2PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0008935Generalized neonatal hypotonia2PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA147815508608109
HP:0001252HP:0006852Episodic generalized hypotonia2PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0009062Infantile axial hypotonia2PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0008935Generalized neonatal hypotonia2PYCR1 CL E G H58312078ORPHA12879721179035
HP:0001252HP:0006852Episodic generalized hypotonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0009062Infantile axial hypotonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0008935Generalized neonatal hypotonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001252HP:0006852Episodic generalized hypotonia2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0009062Infantile axial hypotonia2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0008935Generalized neonatal hypotonia2RAB18 CL E G H229312510ORPHA119114244602207
HP:0001252HP:0006852Episodic generalized hypotonia2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0009062Infantile axial hypotonia2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0008935Generalized neonatal hypotonia2RAB3GAP1 CL E G H229302510ORPHA145917063602536
HP:0001252HP:0006852Episodic generalized hypotonia2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0009062Infantile axial hypotonia2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0008935Generalized neonatal hypotonia2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001252HP:0006852Episodic generalized hypotonia2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0009062Infantile axial hypotonia2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0008935Generalized neonatal hypotonia2RAB3GAP2 CL E G H257822510ORPHA167117168609275
HP:0001252HP:0006852Episodic generalized hypotonia2RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0009062Infantile axial hypotonia2RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0008935Generalized neonatal hypotonia2RAF1 CL E G H5894648ORPHA19909829164760
HP:0001252HP:0006852Episodic generalized hypotonia2RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0009062Infantile axial hypotonia2RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0008935Generalized neonatal hypotonia2RAI1 CL E G H10743819ORPHA116089834607642
HP:0001252HP:0006852Episodic generalized hypotonia2RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0009062Infantile axial hypotonia2RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0008935Generalized neonatal hypotonia2RAI1 CL E G H107431713ORPHA116089834607642
HP:0001252HP:0006852Episodic generalized hypotonia2RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0009062Infantile axial hypotonia2RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0008935Generalized neonatal hypotonia2RAP1A CL E G H59062322ORPHA1419855179520
HP:0001252HP:0006852Episodic generalized hypotonia2RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0009062Infantile axial hypotonia2RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0008935Generalized neonatal hypotonia2RAP1B CL E G H59082322ORPHA1359857179530
HP:0001252HP:0006852Episodic generalized hypotonia2RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0009062Infantile axial hypotonia2RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0008935Generalized neonatal hypotonia2RASA2 CL E G H5922648ORPHA15339872601589
HP:0001252HP:0006852Episodic generalized hypotonia2RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0009062Infantile axial hypotonia2RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0008935Generalized neonatal hypotonia2RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA129149884614041
HP:0001252HP:0006852Episodic generalized hypotonia2RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0009062Infantile axial hypotonia2RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0008935Generalized neonatal hypotonia2RD3 CL E G H34303565ORPHA125619689180040
HP:0001252HP:0006852Episodic generalized hypotonia2RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0009062Infantile axial hypotonia2RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0008935Generalized neonatal hypotonia2RDH12 CL E G H14522665ORPHA149519977608830
HP:0001252HP:0006852Episodic generalized hypotonia2RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0009062Infantile axial hypotonia2RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0008935Generalized neonatal hypotonia2RERE CL E G H4731606ORPHA16599965605226
HP:0001252HP:0006852Episodic generalized hypotonia2RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0009062Infantile axial hypotonia2RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0008935Generalized neonatal hypotonia2RET CL E G H597999803Haddad syndromeC1859587ORPHA131659967164761
HP:0001252HP:0006852Episodic generalized hypotonia2RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0009062Infantile axial hypotonia2RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0008935Generalized neonatal hypotonia2RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM131659967164761
HP:0001252HP:0006852Episodic generalized hypotonia2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0009062Infantile axial hypotonia2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0008935Generalized neonatal hypotonia2RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM152325964613114
HP:0001252HP:0006852Episodic generalized hypotonia2REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0009062Infantile axial hypotonia2REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0008935Generalized neonatal hypotonia2REV3L CL E G H5980570ORPHA12129968602776
HP:0001252HP:0006852Episodic generalized hypotonia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0009062Infantile axial hypotonia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0008935Generalized neonatal hypotonia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001252HP:0006852Episodic generalized hypotonia2RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0009062Infantile axial hypotonia2RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0008935Generalized neonatal hypotonia2RFT1 CL E G H91869244310ORPHA150530220611908
HP:0001252HP:0006852Episodic generalized hypotonia2RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0009062Infantile axial hypotonia2RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0008935Generalized neonatal hypotonia2RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM147718750610222
HP:0001252HP:0006852Episodic generalized hypotonia2RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0009062Infantile axial hypotonia2RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0008935Generalized neonatal hypotonia2RIT1 CL E G H6016648ORPHA126910023609591
HP:0001252HP:0006852Episodic generalized hypotonia2RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0009062Infantile axial hypotonia2RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0008935Generalized neonatal hypotonia2RMRP CL E G H6023175ORPHA180210031157660
HP:0001252HP:0006852Episodic generalized hypotonia2RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0009062Infantile axial hypotonia2RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0008935Generalized neonatal hypotonia2RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0001252HP:0006852Episodic generalized hypotonia2RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0009062Infantile axial hypotonia2RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0008935Generalized neonatal hypotonia2RPE65 CL E G H612165ORPHA178310294180069
HP:0001252HP:0006852Episodic generalized hypotonia2RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0009062Infantile axial hypotonia2RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0008935Generalized neonatal hypotonia2RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0001252HP:0006852Episodic generalized hypotonia2RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0009062Infantile axial hypotonia2RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0008935Generalized neonatal hypotonia2RPGRIP1L CL E G H23322220497ORPHA1149429168610937
HP:0001252HP:0006852Episodic generalized hypotonia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0009062Infantile axial hypotonia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0008935Generalized neonatal hypotonia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001252HP:0006852Episodic generalized hypotonia2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0009062Infantile axial hypotonia2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0008935Generalized neonatal hypotonia2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001252HP:0006852Episodic generalized hypotonia2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0009062Infantile axial hypotonia2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0008935Generalized neonatal hypotonia2RPL10 CL E G H6134435938ORPHA128110298312173
HP:0001252HP:0006852Episodic generalized hypotonia2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0009062Infantile axial hypotonia2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0008935Generalized neonatal hypotonia2RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM151510432300075
HP:0001252HP:0006852Episodic generalized hypotonia2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0009062Infantile axial hypotonia2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0008935Generalized neonatal hypotonia2RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA151510432300075
HP:0001252HP:0006852Episodic generalized hypotonia2RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0009062Infantile axial hypotonia2RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0008935Generalized neonatal hypotonia2RRAS CL E G H6237648ORPHA126010447165090
HP:0001252HP:0006852Episodic generalized hypotonia2RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0009062Infantile axial hypotonia2RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0008935Generalized neonatal hypotonia2RREB1 CL E G H6239567ORPHA129710449602209
HP:0001252HP:0006852Episodic generalized hypotonia2RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0009062Infantile axial hypotonia2RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0008935Generalized neonatal hypotonia2RRM2B CL E G H50484480ORPHA135417296604712
HP:0001252HP:0006852Episodic generalized hypotonia2RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0009062Infantile axial hypotonia2RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0008935Generalized neonatal hypotonia2RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0001252HP:0006852Episodic generalized hypotonia2RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0009062Infantile axial hypotonia2RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0008935Generalized neonatal hypotonia2RYR1 CL E G H6261597ORPHA1616410483180901
HP:0001252HP:0006852Episodic generalized hypotonia2RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0009062Infantile axial hypotonia2RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0008935Generalized neonatal hypotonia2RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1616410483180901
HP:0001252HP:0006852Episodic generalized hypotonia2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0009062Infantile axial hypotonia2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0008935Generalized neonatal hypotonia2SATB2 CL E G H23314251019ORPHA168421637608148
HP:0001252HP:0006852Episodic generalized hypotonia2SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0009062Infantile axial hypotonia2SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0008935Generalized neonatal hypotonia2SC5D CL E G H630946059ORPHA124210547602286
HP:0001252HP:0006852Episodic generalized hypotonia2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0009062Infantile axial hypotonia2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN1A CL E G H632333069ORPHA1403010585182389
HP:0001252HP:0006852Episodic generalized hypotonia2SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0009062Infantile axial hypotonia2SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN1B CL E G H632433069ORPHA151110586600235
HP:0001252HP:0006852Episodic generalized hypotonia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0009062Infantile axial hypotonia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001252HP:0006852Episodic generalized hypotonia2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0009062Infantile axial hypotonia2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN2A CL E G H632633069ORPHA1228010588182390
HP:0001252HP:0006852Episodic generalized hypotonia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0009062Infantile axial hypotonia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001252HP:0006852Episodic generalized hypotonia2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0009062Infantile axial hypotonia2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN9A CL E G H633533069ORPHA1225410597603415
HP:0001252HP:0006852Episodic generalized hypotonia2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0009062Infantile axial hypotonia2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0008935Generalized neonatal hypotonia2SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1225410597603415
HP:0001252HP:0006852Episodic generalized hypotonia2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0009062Infantile axial hypotonia2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0008935Generalized neonatal hypotonia2SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001252HP:0006852Episodic generalized hypotonia2SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0009062Infantile axial hypotonia2SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0008935Generalized neonatal hypotonia2SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001252HP:0006852Episodic generalized hypotonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0009062Infantile axial hypotonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0008935Generalized neonatal hypotonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001252HP:0006852Episodic generalized hypotonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0009062Infantile axial hypotonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0008935Generalized neonatal hypotonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001252HP:0006852Episodic generalized hypotonia2SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0009062Infantile axial hypotonia2SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0008935Generalized neonatal hypotonia2SEC24C CL E G H9632567ORPHA15810705607185
HP:0001252HP:0006852Episodic generalized hypotonia2SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0009062Infantile axial hypotonia2SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0008935Generalized neonatal hypotonia2SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA141610706607186
HP:0001252HP:0006852Episodic generalized hypotonia2SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0009062Infantile axial hypotonia2SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0008935Generalized neonatal hypotonia2SELENON CL E G H571902020ORPHA165115999606210
HP:0001252HP:0006852Episodic generalized hypotonia2SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0009062Infantile axial hypotonia2SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0008935Generalized neonatal hypotonia2SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM165115999606210
HP:0001252HP:0006852Episodic generalized hypotonia2SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0009062Infantile axial hypotonia2SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0008935Generalized neonatal hypotonia2SEMA3E CL E G H9723138ORPHA159410727608166
HP:0001252HP:0006852Episodic generalized hypotonia2SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0009062Infantile axial hypotonia2SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0008935Generalized neonatal hypotonia2SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA122810736609297
HP:0001252HP:0006852Episodic generalized hypotonia2SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0009062Infantile axial hypotonia2SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0008935Generalized neonatal hypotonia2SETD2 CL E G H29072821ORPHA1101318420612778
HP:0001252HP:0006852Episodic generalized hypotonia2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0009062Infantile axial hypotonia2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0008935Generalized neonatal hypotonia2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001252HP:0006852Episodic generalized hypotonia2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0009062Infantile axial hypotonia2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0008935Generalized neonatal hypotonia2SIL1 CL E G H64374559ORPHA135224624608005
HP:0001252HP:0006852Episodic generalized hypotonia2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0009062Infantile axial hypotonia2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0008935Generalized neonatal hypotonia2SIM1 CL E G H6492171829ORPHA122010882603128
HP:0001252HP:0006852Episodic generalized hypotonia2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0009062Infantile axial hypotonia2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0008935Generalized neonatal hypotonia2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM140019353607776
HP:0001252HP:0006852Episodic generalized hypotonia2SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0009062Infantile axial hypotonia2SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0008935Generalized neonatal hypotonia2SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM118310889603714
HP:0001252HP:0006852Episodic generalized hypotonia2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0009062Infantile axial hypotonia2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0008935Generalized neonatal hypotonia2SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0001252HP:0006852Episodic generalized hypotonia2SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0009062Infantile axial hypotonia2SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0008935Generalized neonatal hypotonia2SKI CL E G H64971606ORPHA1106210896164780
HP:0001252HP:0006852Episodic generalized hypotonia2SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0009062Infantile axial hypotonia2SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0008935Generalized neonatal hypotonia2SKI CL E G H64972462ORPHA1106210896164780
HP:0001252HP:0006852Episodic generalized hypotonia2SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0009062Infantile axial hypotonia2SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC13A5 CL E G H2841113006ORPHA168523089608305
HP:0001252HP:0006852Episodic generalized hypotonia2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0009062Infantile axial hypotonia2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM152010933604322
HP:0001252HP:0006852Episodic generalized hypotonia2SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0009062Infantile axial hypotonia2SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0001252HP:0006852Episodic generalized hypotonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0009062Infantile axial hypotonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001252HP:0006852Episodic generalized hypotonia2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0009062Infantile axial hypotonia2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001252HP:0006852Episodic generalized hypotonia2SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0009062Infantile axial hypotonia2SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC25A19 CL E G H6038699742ORPHA118214409606521
HP:0001252HP:0006852Episodic generalized hypotonia2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0009062Infantile axial hypotonia2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001252HP:0006852Episodic generalized hypotonia2SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0009062Infantile axial hypotonia2SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001252HP:0006852Episodic generalized hypotonia2SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0009062Infantile axial hypotonia2SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001252HP:0006852Episodic generalized hypotonia2SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0009062Infantile axial hypotonia2SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC26A2 CL E G H1836628ORPHA168810994606718
HP:0001252HP:0006852Episodic generalized hypotonia2SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0009062Infantile axial hypotonia2SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC26A4 CL E G H517295713ORPHA112228818605646
HP:0001252HP:0006852Episodic generalized hypotonia2SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0009062Infantile axial hypotonia2SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC26A4 CL E G H517295720ORPHA112228818605646
HP:0001252HP:0006852Episodic generalized hypotonia2SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0009062Infantile axial hypotonia2SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM156920305609826
HP:0001252HP:0006852Episodic generalized hypotonia2SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0009062Infantile axial hypotonia2SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM129820197605881
HP:0001252HP:0006852Episodic generalized hypotonia2SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0009062Infantile axial hypotonia2SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC3A1 CL E G H6519163690ORPHA142911025104614
HP:0001252HP:0006852Episodic generalized hypotonia2SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0009062Infantile axial hypotonia2SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0001252HP:0006852Episodic generalized hypotonia2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0009062Infantile axial hypotonia2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001252HP:0006852Episodic generalized hypotonia2SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0009062Infantile axial hypotonia2SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001252HP:0006852Episodic generalized hypotonia2SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0009062Infantile axial hypotonia2SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001252HP:0006852Episodic generalized hypotonia2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0009062Infantile axial hypotonia2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM146416187613350
HP:0001252HP:0006852Episodic generalized hypotonia2SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0009062Infantile axial hypotonia2SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC5A5 CL E G H652895716ORPHA117711040601843
HP:0001252HP:0006852Episodic generalized hypotonia2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0009062Infantile axial hypotonia2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001252HP:0006852Episodic generalized hypotonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0009062Infantile axial hypotonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001252HP:0006852Episodic generalized hypotonia2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0009062Infantile axial hypotonia2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM167111065603593
HP:0001252HP:0006852Episodic generalized hypotonia2SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0009062Infantile axial hypotonia2SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0008935Generalized neonatal hypotonia2SMARCA4 CL E G H65971465ORPHA1497911100603254
HP:0001252HP:0006852Episodic generalized hypotonia2SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0009062Infantile axial hypotonia2SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0008935Generalized neonatal hypotonia2SMARCB1 CL E G H65981465ORPHA1104311103601607
HP:0001252HP:0006852Episodic generalized hypotonia2SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0009062Infantile axial hypotonia2SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0008935Generalized neonatal hypotonia2SMARCE1 CL E G H66051465ORPHA178011109603111
HP:0001252HP:0006852Episodic generalized hypotonia2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0009062Infantile axial hypotonia2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0008935Generalized neonatal hypotonia2SMC1A CL E G H8243319182ORPHA193911111300040
HP:0001252HP:0006852Episodic generalized hypotonia2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0009062Infantile axial hypotonia2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0008935Generalized neonatal hypotonia2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM186411120607608
HP:0001252HP:0006852Episodic generalized hypotonia2SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0009062Infantile axial hypotonia2SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0008935Generalized neonatal hypotonia2SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM129411123300105
HP:0001252HP:0006852Episodic generalized hypotonia2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0009062Infantile axial hypotonia2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0008935Generalized neonatal hypotonia2SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM165811133604202
HP:0001252HP:0006852Episodic generalized hypotonia2SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0009062Infantile axial hypotonia2SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0008935Generalized neonatal hypotonia2SOS1 CL E G H6654648ORPHA1150311187182530
HP:0001252HP:0006852Episodic generalized hypotonia2SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0009062Infantile axial hypotonia2SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0008935Generalized neonatal hypotonia2SOS2 CL E G H6655648ORPHA1125011188601247
HP:0001252HP:0006852Episodic generalized hypotonia2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0009062Infantile axial hypotonia2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0008935Generalized neonatal hypotonia2SOX10 CL E G H6663163746ORPHA137811190602229
HP:0001252HP:0006852Episodic generalized hypotonia2SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0009062Infantile axial hypotonia2SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0008935Generalized neonatal hypotonia2SOX11 CL E G H66641465ORPHA124611191600898
HP:0001252HP:0006852Episodic generalized hypotonia2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0009062Infantile axial hypotonia2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0008935Generalized neonatal hypotonia2SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0001252HP:0006852Episodic generalized hypotonia2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0009062Infantile axial hypotonia2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0008935Generalized neonatal hypotonia2SOX5 CL E G H6660313892ORPHA126411201604975
HP:0001252HP:0006852Episodic generalized hypotonia2SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0009062Infantile axial hypotonia2SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0008935Generalized neonatal hypotonia2SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0001252HP:0006852Episodic generalized hypotonia2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0009062Infantile axial hypotonia2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0008935Generalized neonatal hypotonia2SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM116811219182120
HP:0001252HP:0006852Episodic generalized hypotonia2SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0009062Infantile axial hypotonia2SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0008935Generalized neonatal hypotonia2SPATA7 CL E G H5581265ORPHA143220423609868
HP:0001252HP:0006852Episodic generalized hypotonia2SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0009062Infantile axial hypotonia2SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0008935Generalized neonatal hypotonia2SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM130929022614140
HP:0001252HP:0006852Episodic generalized hypotonia2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0009062Infantile axial hypotonia2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0008935Generalized neonatal hypotonia2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001252HP:0006852Episodic generalized hypotonia2STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0009062Infantile axial hypotonia2STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0008935Generalized neonatal hypotonia2STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM163511386605921
HP:0001252HP:0006852Episodic generalized hypotonia2STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0009062Infantile axial hypotonia2STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0008935Generalized neonatal hypotonia2STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM129430650610745
HP:0001252HP:0006852Episodic generalized hypotonia2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0009062Infantile axial hypotonia2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0008935Generalized neonatal hypotonia2STXBP1 CL E G H681233069ORPHA1101711444602926
HP:0001252HP:0006852Episodic generalized hypotonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0009062Infantile axial hypotonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0008935Generalized neonatal hypotonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001252HP:0006852Episodic generalized hypotonia2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0009062Infantile axial hypotonia2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0008935Generalized neonatal hypotonia2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM130311449611224
HP:0001252HP:0006852Episodic generalized hypotonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0009062Infantile axial hypotonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0008935Generalized neonatal hypotonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001252HP:0006852Episodic generalized hypotonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0009062Infantile axial hypotonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0008935Generalized neonatal hypotonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001252HP:0006852Episodic generalized hypotonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0009062Infantile axial hypotonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0008935Generalized neonatal hypotonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001252HP:0006852Episodic generalized hypotonia2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0009062Infantile axial hypotonia2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0008935Generalized neonatal hypotonia2TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001252HP:0006852Episodic generalized hypotonia2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0009062Infantile axial hypotonia2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0008935Generalized neonatal hypotonia2TBC1D20 CL E G H1286372510ORPHA119516133611663
HP:0001252HP:0006852Episodic generalized hypotonia2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0009062Infantile axial hypotonia2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0008935Generalized neonatal hypotonia2TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM189329203613577
HP:0001252HP:0006852Episodic generalized hypotonia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0009062Infantile axial hypotonia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0008935Generalized neonatal hypotonia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001252HP:0006852Episodic generalized hypotonia2TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0009062Infantile axial hypotonia2TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0008935Generalized neonatal hypotonia2TBX1 CL E G H6899567ORPHA1116911592602054
HP:0001252HP:0006852Episodic generalized hypotonia2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0009062Infantile axial hypotonia2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0008935Generalized neonatal hypotonia2TBX1 CL E G H68991727ORPHA1116911592602054
HP:0001252HP:0006852Episodic generalized hypotonia2TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0009062Infantile axial hypotonia2TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0008935Generalized neonatal hypotonia2TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA1106911634602272
HP:0001252HP:0006852Episodic generalized hypotonia2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0009062Infantile axial hypotonia2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0008935Generalized neonatal hypotonia2TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM1106911634602272
HP:0001252HP:0006852Episodic generalized hypotonia2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0009062Infantile axial hypotonia2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0008935Generalized neonatal hypotonia2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA139326113609863
HP:0001252HP:0006852Episodic generalized hypotonia2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0009062Infantile axial hypotonia2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0008935Generalized neonatal hypotonia2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA162225774613846
HP:0001252HP:0006852Episodic generalized hypotonia2TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0009062Infantile axial hypotonia2TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0008935Generalized neonatal hypotonia2TG CL E G H703895716ORPHA172211764188450
HP:0001252HP:0006852Episodic generalized hypotonia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0009062Infantile axial hypotonia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0008935Generalized neonatal hypotonia2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0001252HP:0006852Episodic generalized hypotonia2THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0009062Infantile axial hypotonia2THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0008935Generalized neonatal hypotonia2THRA CL E G H706797927ORPHA16211796190120
HP:0001252HP:0006852Episodic generalized hypotonia2THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0009062Infantile axial hypotonia2THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0008935Generalized neonatal hypotonia2THRB CL E G H706897927ORPHA134811799190160
HP:0001252HP:0006852Episodic generalized hypotonia2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0009062Infantile axial hypotonia2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0008935Generalized neonatal hypotonia2TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM144211831188250
HP:0001252HP:0006852Episodic generalized hypotonia2TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0009062Infantile axial hypotonia2TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0008935Generalized neonatal hypotonia2TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM17518188614123
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0009062Infantile axial hypotonia2TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM138 CL E G H515242318ORPHA116626944614459
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0009062Infantile axial hypotonia2TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM216 CL E G H512592318ORPHA123625018613277
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0009062Infantile axial hypotonia2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0009062Infantile axial hypotonia2TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM231 CL E G H795832318ORPHA146337234614949
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0009062Infantile axial hypotonia2TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM237 CL E G H650622318ORPHA146614432614423
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0009062Infantile axial hypotonia2TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM237 CL E G H65062220497ORPHA146614432614423
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0009062Infantile axial hypotonia2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA146614432614423
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0009062Infantile axial hypotonia2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA192828396609884
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0009062Infantile axial hypotonia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0009062Infantile axial hypotonia2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0009062Infantile axial hypotonia2TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0009062Infantile axial hypotonia2TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001252HP:0006852Episodic generalized hypotonia2TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0009062Infantile axial hypotonia2TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0008935Generalized neonatal hypotonia2TNXB CL E G H7148230839ORPHA1215911976600985
HP:0001252HP:0006852Episodic generalized hypotonia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0009062Infantile axial hypotonia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0008935Generalized neonatal hypotonia2TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM12203098605204
HP:0001252HP:0006852Episodic generalized hypotonia2TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0009062Infantile axial hypotonia2TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0008935Generalized neonatal hypotonia2TPI1 CL E G H7167868ORPHA118112009190450
HP:0001252HP:0006852Episodic generalized hypotonia2TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0009062Infantile axial hypotonia2TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0008935Generalized neonatal hypotonia2TPM2 CL E G H71692020ORPHA134112011190990
HP:0001252HP:0006852Episodic generalized hypotonia2TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0009062Infantile axial hypotonia2TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0008935Generalized neonatal hypotonia2TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM134112011190990
HP:0001252HP:0006852Episodic generalized hypotonia2TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0009062Infantile axial hypotonia2TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0008935Generalized neonatal hypotonia2TPM3 CL E G H71702020ORPHA134312012191030
HP:0001252HP:0006852Episodic generalized hypotonia2TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0009062Infantile axial hypotonia2TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0008935Generalized neonatal hypotonia2TPO CL E G H717395716ORPHA134812015606765
HP:0001252HP:0006852Episodic generalized hypotonia2TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0009062Infantile axial hypotonia2TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0008935Generalized neonatal hypotonia2TRAPPC9 CL E G H83696352530ORPHA183130832611966
HP:0001252HP:0006852Episodic generalized hypotonia2TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0009062Infantile axial hypotonia2TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0008935Generalized neonatal hypotonia2TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM13747523605073
HP:0001252HP:0006852Episodic generalized hypotonia2TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0009062Infantile axial hypotonia2TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0008935Generalized neonatal hypotonia2TRPS1 CL E G H722777258ORPHA154212340604386
HP:0001252HP:0006852Episodic generalized hypotonia2TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0009062Infantile axial hypotonia2TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0008935Generalized neonatal hypotonia2TRPV4 CL E G H593411216ORPHA1101818083605427
HP:0001252HP:0006852Episodic generalized hypotonia2TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0009062Infantile axial hypotonia2TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0008935Generalized neonatal hypotonia2TSHB CL E G H725290674ORPHA13512372188540
HP:0001252HP:0006852Episodic generalized hypotonia2TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0009062Infantile axial hypotonia2TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0008935Generalized neonatal hypotonia2TSHB CL E G H7252275100Secondary hypothyroidism275100C0271789OMIM13512372188540
HP:0001252HP:0006852Episodic generalized hypotonia2TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0009062Infantile axial hypotonia2TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0008935Generalized neonatal hypotonia2TSHR CL E G H725390673ORPHA124912373603372
HP:0001252HP:0006852Episodic generalized hypotonia2TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0009062Infantile axial hypotonia2TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0008935Generalized neonatal hypotonia2TSHR CL E G H725395713ORPHA124912373603372
HP:0001252HP:0006852Episodic generalized hypotonia2TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0009062Infantile axial hypotonia2TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0008935Generalized neonatal hypotonia2TSHR CL E G H725395720ORPHA124912373603372
HP:0001252HP:0006852Episodic generalized hypotonia2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0009062Infantile axial hypotonia2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0008935Generalized neonatal hypotonia2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001252HP:0006852Episodic generalized hypotonia2TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0009062Infantile axial hypotonia2TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0008935Generalized neonatal hypotonia2TULP1 CL E G H728765ORPHA158712423602280
HP:0001252HP:0006852Episodic generalized hypotonia2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0009062Infantile axial hypotonia2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0008935Generalized neonatal hypotonia2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM14501160606075
HP:0001252HP:0006852Episodic generalized hypotonia2UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0009062Infantile axial hypotonia2UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0008935Generalized neonatal hypotonia2UBA1 CL E G H73171145ORPHA163112469314370
HP:0001252HP:0006852Episodic generalized hypotonia2UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0009062Infantile axial hypotonia2UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0008935Generalized neonatal hypotonia2UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0001252HP:0006852Episodic generalized hypotonia2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0009062Infantile axial hypotonia2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0008935Generalized neonatal hypotonia2UBE3A CL E G H7337238446ORPHA1110812496601623
HP:0001252HP:0006852Episodic generalized hypotonia2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0009062Infantile axial hypotonia2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0008935Generalized neonatal hypotonia2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001252HP:0006852Episodic generalized hypotonia2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0009062Infantile axial hypotonia2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0008935Generalized neonatal hypotonia2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0001252HP:0006852Episodic generalized hypotonia2UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0009062Infantile axial hypotonia2UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0008935Generalized neonatal hypotonia2UFD1 CL E G H7353567ORPHA141512520601754
HP:0001252HP:0006852Episodic generalized hypotonia2UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0009062Infantile axial hypotonia2UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0008935Generalized neonatal hypotonia2UPF3B CL E G H65109776ORPHA137720439300298
HP:0001252HP:0006852Episodic generalized hypotonia2VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0009062Infantile axial hypotonia2VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0008935Generalized neonatal hypotonia2VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM134512679601769
HP:0001252HP:0006852Episodic generalized hypotonia2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0009062Infantile axial hypotonia2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0008935Generalized neonatal hypotonia2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001252HP:0006852Episodic generalized hypotonia2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0009062Infantile axial hypotonia2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0008935Generalized neonatal hypotonia2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001252HP:0006852Episodic generalized hypotonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0009062Infantile axial hypotonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0008935Generalized neonatal hypotonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001252HP:0006852Episodic generalized hypotonia2VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0009062Infantile axial hypotonia2VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0008935Generalized neonatal hypotonia2VPS13B CL E G H157680193ORPHA148762183607817
HP:0001252HP:0006852Episodic generalized hypotonia2VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0009062Infantile axial hypotonia2VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0008935Generalized neonatal hypotonia2VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM136912712608552
HP:0001252HP:0006852Episodic generalized hypotonia2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0009062Infantile axial hypotonia2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0008935Generalized neonatal hypotonia2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001252HP:0006852Episodic generalized hypotonia2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0009062Infantile axial hypotonia2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0008935Generalized neonatal hypotonia2WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0001252HP:0006852Episodic generalized hypotonia2WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0009062Infantile axial hypotonia2WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0008935Generalized neonatal hypotonia2WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0001252HP:0006852Episodic generalized hypotonia2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0009062Infantile axial hypotonia2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0008935Generalized neonatal hypotonia2WDR73 CL E G H8494283472ORPHA122025928616144
HP:0001252HP:0006852Episodic generalized hypotonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0009062Infantile axial hypotonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0008935Generalized neonatal hypotonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001252HP:0006852Episodic generalized hypotonia2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0009062Infantile axial hypotonia2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0008935Generalized neonatal hypotonia2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001252HP:0006852Episodic generalized hypotonia2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0009062Infantile axial hypotonia2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0008935Generalized neonatal hypotonia2WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1171614540605232
HP:0001252HP:0006852Episodic generalized hypotonia2YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0009062Infantile axial hypotonia2YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0008935Generalized neonatal hypotonia2YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA127424249610957
HP:0001252HP:0006852Episodic generalized hypotonia2YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0009062Infantile axial hypotonia2YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0008935Generalized neonatal hypotonia2YWHAE CL E G H7531217385ORPHA118512851605066
HP:0001252HP:0006852Episodic generalized hypotonia2ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0009062Infantile axial hypotonia2ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0008935Generalized neonatal hypotonia2ZDHHC9 CL E G H51114776ORPHA137618475300646
HP:0001252HP:0006852Episodic generalized hypotonia2ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0009062Infantile axial hypotonia2ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0008935Generalized neonatal hypotonia2ZNF423 CL E G H230902318ORPHA181016762604557
HP:0001252HP:0006852Episodic generalized hypotonia2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0009062Infantile axial hypotonia2ZNF592 CL E G H964083472ORPHA112828986613624
HP:0001252HP:0008935Generalized neonatal hypotonia2ZNF592 CL E G H964083472ORPHA112828986613624
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001252HP:0001252Hypotonia0AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0001252Hypotonia0ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0001252Hypotonia0ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0001252Hypotonia0ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0001252Hypotonia0ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0001252Hypotonia0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0001252Hypotonia0BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0001252Hypotonia0BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0001252Hypotonia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0001252Hypotonia0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0001252Hypotonia0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0001252Hypotonia0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0001252Hypotonia0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0001252Hypotonia0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0001252Hypotonia0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0001252Hypotonia0CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0001252Hypotonia0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0001252Hypotonia0COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0001252Hypotonia0COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0001252Hypotonia0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0001252Hypotonia0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0001252Hypotonia0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0001252Hypotonia0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0001252Hypotonia0DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0001252Hypotonia0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0001252Hypotonia0EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0001252Hypotonia0EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0001252Hypotonia0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0001252Hypotonia0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0001252Hypotonia0FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0001252Hypotonia0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0001252Hypotonia0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0001252Hypotonia0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0001252Hypotonia0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0001252Hypotonia0FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0001252Hypotonia0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0001252Hypotonia0GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0001252Hypotonia0GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0001252Hypotonia0GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0001252Hypotonia0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0001252Hypotonia0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0001252Hypotonia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0001252Hypotonia0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0001252Hypotonia0HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0001252Hypotonia0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0001252Hypotonia0HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0001252Hypotonia0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0001252Hypotonia0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0001252Hypotonia0INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0001252Hypotonia0KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0001252Hypotonia0KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0001252Hypotonia0KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0001252Hypotonia0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0001252Hypotonia0KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0001252Hypotonia0KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0001252Hypotonia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0001252Hypotonia0LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0001252Hypotonia0LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0001252Hypotonia0LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0001252Hypotonia0LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0001252Hypotonia0LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0001252Hypotonia0LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0001252Hypotonia0LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0001252Hypotonia0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0001252Hypotonia0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0001252Hypotonia0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0001252Hypotonia0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0001252Hypotonia0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0001252Hypotonia0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0001252Hypotonia0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0001252Hypotonia0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0001252Hypotonia0MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0001252Hypotonia0MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0001252Hypotonia0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0001252Hypotonia0MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0001252Hypotonia0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0001252Hypotonia0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0001252Hypotonia0MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0001252Hypotonia0MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0001252Hypotonia0NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0001252Hypotonia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0001252Hypotonia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0001252Hypotonia0NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0001252Hypotonia0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0001252Hypotonia0NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0001252Hypotonia0OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0001252Hypotonia0PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0001252Hypotonia0PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0001252Hypotonia0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0001252Hypotonia0PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0001252Hypotonia0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0001252Hypotonia0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0001252Hypotonia0PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0001252Hypotonia0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0001252Hypotonia0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0001252Hypotonia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0001252Hypotonia0RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0001252Hypotonia0RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0001252Hypotonia0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0001252Hypotonia0RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0001252Hypotonia0SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0001252Hypotonia0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0001252Hypotonia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0001252Hypotonia0SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0001252Hypotonia0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0001252Hypotonia0SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0001252Hypotonia0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0001252Hypotonia0SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0001252Hypotonia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0001252Hypotonia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0001252Hypotonia0SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0001252Hypotonia0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0001252Hypotonia0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0001252Hypotonia0STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0001252Hypotonia0STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0001252Hypotonia0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0001252Hypotonia0SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0001252Hypotonia0SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0001252Hypotonia0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0001252Hypotonia0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0001252Hypotonia0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0001252Hypotonia0TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0001252Hypotonia0TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0001252Hypotonia0TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0001252Hypotonia0TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0001252Hypotonia0TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0001252Hypotonia0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0001252Hypotonia0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0001252Hypotonia0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0001252Hypotonia0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0001252Hypotonia0WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0001252Hypotonia0WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0001252Hypotonia0ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0000297Facial hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0012389Appendicular hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0031139Frog-leg posture1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0001290Generalized hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0008947Infantile muscular hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0008936Muscular hypotonia of the trunk1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0001319Neonatal hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0030190Oral motor hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0006829Severe muscular hypotonia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0000297Facial hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0012389Appendicular hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0031139Frog-leg posture1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0001290Generalized hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0008947Infantile muscular hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0008936Muscular hypotonia of the trunk1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0001319Neonatal hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0030190Oral motor hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0006829Severe muscular hypotonia1ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0000297Facial hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0012389Appendicular hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0031139Frog-leg posture1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0001290Generalized hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0008947Infantile muscular hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0008936Muscular hypotonia of the trunk1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0001319Neonatal hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0030190Oral motor hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0006829Severe muscular hypotonia1ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0000297Facial hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0012389Appendicular hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0031139Frog-leg posture1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0001290Generalized hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0008947Infantile muscular hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0008936Muscular hypotonia of the trunk1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0001319Neonatal hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0030190Oral motor hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0006829Severe muscular hypotonia1ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0000297Facial hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0012389Appendicular hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0031139Frog-leg posture1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0001290Generalized hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0001319Neonatal hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0030190Oral motor hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0006829Severe muscular hypotonia1ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0000297Facial hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0012389Appendicular hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0031139Frog-leg posture1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0001290Generalized hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0008947Infantile muscular hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0001319Neonatal hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0030190Oral motor hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0006829Severe muscular hypotonia1ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0000297Facial hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0012389Appendicular hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0031139Frog-leg posture1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0001290Generalized hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0008947Infantile muscular hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0008936Muscular hypotonia of the trunk1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0001319Neonatal hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0030190Oral motor hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0006829Severe muscular hypotonia1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0000297Facial hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0012389Appendicular hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0031139Frog-leg posture1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0001290Generalized hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0008947Infantile muscular hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0008936Muscular hypotonia of the trunk1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0001319Neonatal hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0030190Oral motor hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0006829Severe muscular hypotonia1BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0000297Facial hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0012389Appendicular hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0031139Frog-leg posture1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0001290Generalized hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0008947Infantile muscular hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0008936Muscular hypotonia of the trunk1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0001319Neonatal hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0030190Oral motor hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0006829Severe muscular hypotonia1BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0000297Facial hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0012389Appendicular hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0031139Frog-leg posture1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0001290Generalized hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0008947Infantile muscular hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0008936Muscular hypotonia of the trunk1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0001319Neonatal hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0030190Oral motor hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0006829Severe muscular hypotonia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0000297Facial hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0012389Appendicular hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0031139Frog-leg posture1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0001290Generalized hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0008947Infantile muscular hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0008936Muscular hypotonia of the trunk1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0001319Neonatal hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0030190Oral motor hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0006829Severe muscular hypotonia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0000297Facial hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0012389Appendicular hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0031139Frog-leg posture1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0001290Generalized hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0008947Infantile muscular hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0008936Muscular hypotonia of the trunk1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0001319Neonatal hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0030190Oral motor hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0006829Severe muscular hypotonia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0000297Facial hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0012389Appendicular hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0031139Frog-leg posture1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0001290Generalized hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0008947Infantile muscular hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0008936Muscular hypotonia of the trunk1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0001319Neonatal hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0030190Oral motor hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0006829Severe muscular hypotonia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0000297Facial hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0012389Appendicular hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0031139Frog-leg posture1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0001290Generalized hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0008947Infantile muscular hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0008936Muscular hypotonia of the trunk1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0001319Neonatal hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0030190Oral motor hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0006829Severe muscular hypotonia1C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0000297Facial hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0012389Appendicular hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0031139Frog-leg posture1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0001290Generalized hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0008947Infantile muscular hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0008936Muscular hypotonia of the trunk1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0001319Neonatal hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0030190Oral motor hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0006829Severe muscular hypotonia1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0000297Facial hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0012389Appendicular hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0031139Frog-leg posture1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0001290Generalized hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0008947Infantile muscular hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0008936Muscular hypotonia of the trunk1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0001319Neonatal hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0030190Oral motor hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0006829Severe muscular hypotonia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0000297Facial hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0012389Appendicular hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0031139Frog-leg posture1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0001290Generalized hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0008947Infantile muscular hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0008936Muscular hypotonia of the trunk1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0001319Neonatal hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0030190Oral motor hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0006829Severe muscular hypotonia1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0000297Facial hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0012389Appendicular hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0031139Frog-leg posture1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0001290Generalized hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0008947Infantile muscular hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0008936Muscular hypotonia of the trunk1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0001319Neonatal hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0030190Oral motor hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0006829Severe muscular hypotonia1CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0000297Facial hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0012389Appendicular hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0031139Frog-leg posture1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0001290Generalized hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0008947Infantile muscular hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0008936Muscular hypotonia of the trunk1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0001319Neonatal hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0030190Oral motor hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0006829Severe muscular hypotonia1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0000297Facial hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0012389Appendicular hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0031139Frog-leg posture1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0001290Generalized hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0008947Infantile muscular hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0001319Neonatal hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0030190Oral motor hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0006829Severe muscular hypotonia1COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0000297Facial hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0012389Appendicular hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0031139Frog-leg posture1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0001290Generalized hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0008947Infantile muscular hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0001319Neonatal hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0030190Oral motor hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0006829Severe muscular hypotonia1COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0000297Facial hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0012389Appendicular hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0031139Frog-leg posture1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0001290Generalized hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0008947Infantile muscular hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0001319Neonatal hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0030190Oral motor hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0006829Severe muscular hypotonia1COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0000297Facial hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0012389Appendicular hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0031139Frog-leg posture1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0001290Generalized hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0008947Infantile muscular hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0008936Muscular hypotonia of the trunk1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0001319Neonatal hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0030190Oral motor hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0006829Severe muscular hypotonia1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0000297Facial hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0012389Appendicular hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0031139Frog-leg posture1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0001290Generalized hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0008947Infantile muscular hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0008936Muscular hypotonia of the trunk1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0001319Neonatal hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0030190Oral motor hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0006829Severe muscular hypotonia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0000297Facial hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0012389Appendicular hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0031139Frog-leg posture1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0001290Generalized hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0008947Infantile muscular hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0008936Muscular hypotonia of the trunk1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0001319Neonatal hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0030190Oral motor hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0006829Severe muscular hypotonia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0000297Facial hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0012389Appendicular hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0031139Frog-leg posture1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0001290Generalized hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0008947Infantile muscular hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0008936Muscular hypotonia of the trunk1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0001319Neonatal hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0030190Oral motor hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0006829Severe muscular hypotonia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0000297Facial hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0012389Appendicular hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0031139Frog-leg posture1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0001290Generalized hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0008947Infantile muscular hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0008936Muscular hypotonia of the trunk1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0001319Neonatal hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0030190Oral motor hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0006829Severe muscular hypotonia1DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0000297Facial hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0012389Appendicular hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0031139Frog-leg posture1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0001290Generalized hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0008947Infantile muscular hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0008936Muscular hypotonia of the trunk1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0001319Neonatal hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0030190Oral motor hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0006829Severe muscular hypotonia1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0000297Facial hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0012389Appendicular hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0031139Frog-leg posture1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0001290Generalized hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0008947Infantile muscular hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0008936Muscular hypotonia of the trunk1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0001319Neonatal hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0030190Oral motor hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0006829Severe muscular hypotonia1EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0000297Facial hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0012389Appendicular hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0031139Frog-leg posture1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0001290Generalized hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0008947Infantile muscular hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0008936Muscular hypotonia of the trunk1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0001319Neonatal hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0030190Oral motor hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0006829Severe muscular hypotonia1EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0000297Facial hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0012389Appendicular hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0031139Frog-leg posture1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0001290Generalized hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0008947Infantile muscular hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0008936Muscular hypotonia of the trunk1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0001319Neonatal hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0030190Oral motor hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0006829Severe muscular hypotonia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0000297Facial hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0012389Appendicular hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0031139Frog-leg posture1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0001290Generalized hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0008947Infantile muscular hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0008936Muscular hypotonia of the trunk1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0001319Neonatal hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0030190Oral motor hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0006829Severe muscular hypotonia1EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0000297Facial hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0012389Appendicular hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0031139Frog-leg posture1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0001290Generalized hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0008947Infantile muscular hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0008936Muscular hypotonia of the trunk1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0001319Neonatal hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0030190Oral motor hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0006829Severe muscular hypotonia1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0000297Facial hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0012389Appendicular hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0031139Frog-leg posture1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0001290Generalized hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0008947Infantile muscular hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0008936Muscular hypotonia of the trunk1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0001319Neonatal hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0030190Oral motor hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0006829Severe muscular hypotonia1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0000297Facial hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0012389Appendicular hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0031139Frog-leg posture1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0001290Generalized hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0008947Infantile muscular hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0001319Neonatal hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0030190Oral motor hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0006829Severe muscular hypotonia1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0000297Facial hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0012389Appendicular hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0031139Frog-leg posture1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0001290Generalized hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0008947Infantile muscular hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0001319Neonatal hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0030190Oral motor hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0006829Severe muscular hypotonia1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0000297Facial hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0012389Appendicular hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0031139Frog-leg posture1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0001290Generalized hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0008947Infantile muscular hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0008936Muscular hypotonia of the trunk1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0001319Neonatal hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0030190Oral motor hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0006829Severe muscular hypotonia1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0000297Facial hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0012389Appendicular hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0031139Frog-leg posture1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0001290Generalized hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0008947Infantile muscular hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0008936Muscular hypotonia of the trunk1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0001319Neonatal hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0030190Oral motor hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0006829Severe muscular hypotonia1FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0000297Facial hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0012389Appendicular hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0031139Frog-leg posture1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0001290Generalized hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0008947Infantile muscular hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0008936Muscular hypotonia of the trunk1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0001319Neonatal hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0030190Oral motor hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0006829Severe muscular hypotonia1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0000297Facial hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0012389Appendicular hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0031139Frog-leg posture1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0001290Generalized hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0008947Infantile muscular hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0008936Muscular hypotonia of the trunk1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0001319Neonatal hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0030190Oral motor hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0006829Severe muscular hypotonia1GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0000297Facial hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0012389Appendicular hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0031139Frog-leg posture1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0001290Generalized hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0008947Infantile muscular hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0008936Muscular hypotonia of the trunk1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0001319Neonatal hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0030190Oral motor hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0006829Severe muscular hypotonia1GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0000297Facial hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0012389Appendicular hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0031139Frog-leg posture1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0001290Generalized hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0008947Infantile muscular hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0008936Muscular hypotonia of the trunk1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0001319Neonatal hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0030190Oral motor hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0006829Severe muscular hypotonia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0000297Facial hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0012389Appendicular hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0031139Frog-leg posture1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0001290Generalized hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0008947Infantile muscular hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0008936Muscular hypotonia of the trunk1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0001319Neonatal hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0030190Oral motor hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0006829Severe muscular hypotonia1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0000297Facial hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0012389Appendicular hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0031139Frog-leg posture1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0001290Generalized hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0008947Infantile muscular hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0008936Muscular hypotonia of the trunk1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0001319Neonatal hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0030190Oral motor hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0006829Severe muscular hypotonia1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0000297Facial hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0012389Appendicular hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0031139Frog-leg posture1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0001290Generalized hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0008947Infantile muscular hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0008936Muscular hypotonia of the trunk1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0001319Neonatal hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0030190Oral motor hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0006829Severe muscular hypotonia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0000297Facial hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0012389Appendicular hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0031139Frog-leg posture1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0001290Generalized hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0008947Infantile muscular hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0008936Muscular hypotonia of the trunk1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0001319Neonatal hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0030190Oral motor hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0006829Severe muscular hypotonia1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0000297Facial hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0012389Appendicular hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0031139Frog-leg posture1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0001290Generalized hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0008947Infantile muscular hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0008936Muscular hypotonia of the trunk1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0001319Neonatal hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0030190Oral motor hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0006829Severe muscular hypotonia1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0000297Facial hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0012389Appendicular hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0031139Frog-leg posture1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0001290Generalized hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0008947Infantile muscular hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0008936Muscular hypotonia of the trunk1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0001319Neonatal hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0030190Oral motor hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0006829Severe muscular hypotonia1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0000297Facial hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0012389Appendicular hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0031139Frog-leg posture1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0001290Generalized hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0008947Infantile muscular hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0008936Muscular hypotonia of the trunk1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0001319Neonatal hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0030190Oral motor hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0006829Severe muscular hypotonia1HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0000297Facial hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0012389Appendicular hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0031139Frog-leg posture1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0001290Generalized hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0008947Infantile muscular hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0008936Muscular hypotonia of the trunk1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0001319Neonatal hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0030190Oral motor hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0006829Severe muscular hypotonia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0000297Facial hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0012389Appendicular hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0031139Frog-leg posture1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0001290Generalized hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0008947Infantile muscular hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0008936Muscular hypotonia of the trunk1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0001319Neonatal hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0030190Oral motor hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0006829Severe muscular hypotonia1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0000297Facial hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0012389Appendicular hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0031139Frog-leg posture1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0001290Generalized hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0008947Infantile muscular hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0008936Muscular hypotonia of the trunk1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0001319Neonatal hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0030190Oral motor hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0006829Severe muscular hypotonia1INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0000297Facial hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0012389Appendicular hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0031139Frog-leg posture1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0001290Generalized hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0008947Infantile muscular hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0001319Neonatal hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0030190Oral motor hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0006829Severe muscular hypotonia1KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0000297Facial hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0012389Appendicular hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0031139Frog-leg posture1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0001290Generalized hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0008947Infantile muscular hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0001319Neonatal hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0030190Oral motor hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0006829Severe muscular hypotonia1KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0000297Facial hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0012389Appendicular hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0031139Frog-leg posture1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0001290Generalized hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0008947Infantile muscular hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0001319Neonatal hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0030190Oral motor hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0006829Severe muscular hypotonia1KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0000297Facial hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0012389Appendicular hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0031139Frog-leg posture1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0001290Generalized hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0008947Infantile muscular hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0008936Muscular hypotonia of the trunk1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0001319Neonatal hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0030190Oral motor hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0006829Severe muscular hypotonia1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0000297Facial hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0012389Appendicular hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0031139Frog-leg posture1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0001290Generalized hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0008947Infantile muscular hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0001319Neonatal hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0030190Oral motor hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0006829Severe muscular hypotonia1KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0000297Facial hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0012389Appendicular hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0031139Frog-leg posture1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0001290Generalized hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0008947Infantile muscular hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0008936Muscular hypotonia of the trunk1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0001319Neonatal hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0030190Oral motor hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0006829Severe muscular hypotonia1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0000297Facial hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0012389Appendicular hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0031139Frog-leg posture1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0001290Generalized hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0008947Infantile muscular hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0008936Muscular hypotonia of the trunk1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0001319Neonatal hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0030190Oral motor hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0006829Severe muscular hypotonia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0000297Facial hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0012389Appendicular hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0031139Frog-leg posture1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0001290Generalized hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0008947Infantile muscular hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0008936Muscular hypotonia of the trunk1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0001319Neonatal hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0030190Oral motor hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0006829Severe muscular hypotonia1LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0000297Facial hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0012389Appendicular hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0031139Frog-leg posture1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0001290Generalized hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0008947Infantile muscular hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0008936Muscular hypotonia of the trunk1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0001319Neonatal hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0030190Oral motor hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0006829Severe muscular hypotonia1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0000297Facial hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0012389Appendicular hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0031139Frog-leg posture1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0001290Generalized hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0008947Infantile muscular hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0008936Muscular hypotonia of the trunk1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0001319Neonatal hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0030190Oral motor hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0006829Severe muscular hypotonia1LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0000297Facial hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0012389Appendicular hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0031139Frog-leg posture1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0001290Generalized hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0008947Infantile muscular hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0001319Neonatal hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0030190Oral motor hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0006829Severe muscular hypotonia1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0000297Facial hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0012389Appendicular hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0031139Frog-leg posture1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0001290Generalized hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0008947Infantile muscular hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0001319Neonatal hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0030190Oral motor hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0006829Severe muscular hypotonia1LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0000297Facial hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0012389Appendicular hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0031139Frog-leg posture1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0001290Generalized hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0008947Infantile muscular hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0001319Neonatal hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0030190Oral motor hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0006829Severe muscular hypotonia1LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0000297Facial hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0012389Appendicular hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0031139Frog-leg posture1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0001290Generalized hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0008947Infantile muscular hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0008936Muscular hypotonia of the trunk1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0001319Neonatal hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0030190Oral motor hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0006829Severe muscular hypotonia1LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0000297Facial hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0012389Appendicular hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0031139Frog-leg posture1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0001290Generalized hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0008947Infantile muscular hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0008936Muscular hypotonia of the trunk1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0001319Neonatal hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0030190Oral motor hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0006829Severe muscular hypotonia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0000297Facial hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0012389Appendicular hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0031139Frog-leg posture1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0001290Generalized hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0008947Infantile muscular hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0001319Neonatal hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0030190Oral motor hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0006829Severe muscular hypotonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0000297Facial hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0012389Appendicular hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0031139Frog-leg posture1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0001290Generalized hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0008947Infantile muscular hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0001319Neonatal hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0030190Oral motor hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0006829Severe muscular hypotonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0000297Facial hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0012389Appendicular hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0031139Frog-leg posture1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0001290Generalized hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0008947Infantile muscular hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0001319Neonatal hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0030190Oral motor hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0006829Severe muscular hypotonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0000297Facial hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0012389Appendicular hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0031139Frog-leg posture1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0001290Generalized hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0008947Infantile muscular hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0001319Neonatal hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0030190Oral motor hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0006829Severe muscular hypotonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0000297Facial hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0012389Appendicular hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0031139Frog-leg posture1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0001290Generalized hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0008947Infantile muscular hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0001319Neonatal hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0030190Oral motor hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0006829Severe muscular hypotonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0000297Facial hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0012389Appendicular hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0031139Frog-leg posture1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0001290Generalized hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0008947Infantile muscular hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0001319Neonatal hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0030190Oral motor hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0006829Severe muscular hypotonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0000297Facial hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0012389Appendicular hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0031139Frog-leg posture1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0001290Generalized hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0008947Infantile muscular hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0001319Neonatal hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0030190Oral motor hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0006829Severe muscular hypotonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0000297Facial hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0012389Appendicular hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0031139Frog-leg posture1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0001290Generalized hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0001319Neonatal hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0030190Oral motor hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0006829Severe muscular hypotonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0000297Facial hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0012389Appendicular hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0031139Frog-leg posture1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0001290Generalized hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0001319Neonatal hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0030190Oral motor hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0006829Severe muscular hypotonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0000297Facial hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0012389Appendicular hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0031139Frog-leg posture1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0001290Generalized hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0001319Neonatal hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0030190Oral motor hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0006829Severe muscular hypotonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0000297Facial hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0012389Appendicular hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0031139Frog-leg posture1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0001290Generalized hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0001319Neonatal hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0030190Oral motor hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0006829Severe muscular hypotonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0000297Facial hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0012389Appendicular hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0031139Frog-leg posture1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0001290Generalized hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0001319Neonatal hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0030190Oral motor hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0006829Severe muscular hypotonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0000297Facial hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0012389Appendicular hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0031139Frog-leg posture1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0001290Generalized hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0001319Neonatal hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0030190Oral motor hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0006829Severe muscular hypotonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0000297Facial hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0012389Appendicular hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0031139Frog-leg posture1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0001290Generalized hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0008947Infantile muscular hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0008936Muscular hypotonia of the trunk1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0001319Neonatal hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0030190Oral motor hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0006829Severe muscular hypotonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0000297Facial hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0012389Appendicular hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0031139Frog-leg posture1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0001290Generalized hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0008947Infantile muscular hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0008936Muscular hypotonia of the trunk1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0001319Neonatal hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0030190Oral motor hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0006829Severe muscular hypotonia1MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0000297Facial hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0012389Appendicular hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0031139Frog-leg posture1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0001290Generalized hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0008947Infantile muscular hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0001319Neonatal hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0030190Oral motor hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0006829Severe muscular hypotonia1NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0000297Facial hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0012389Appendicular hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0031139Frog-leg posture1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0001290Generalized hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0008947Infantile muscular hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0008936Muscular hypotonia of the trunk1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0001319Neonatal hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0030190Oral motor hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0006829Severe muscular hypotonia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0000297Facial hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0012389Appendicular hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0031139Frog-leg posture1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0001290Generalized hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0008947Infantile muscular hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0008936Muscular hypotonia of the trunk1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0001319Neonatal hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0030190Oral motor hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0006829Severe muscular hypotonia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0000297Facial hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0012389Appendicular hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0031139Frog-leg posture1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0001290Generalized hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0008947Infantile muscular hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0008936Muscular hypotonia of the trunk1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0001319Neonatal hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0030190Oral motor hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0006829Severe muscular hypotonia1NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0000297Facial hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0012389Appendicular hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0031139Frog-leg posture1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0001290Generalized hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0008947Infantile muscular hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0008936Muscular hypotonia of the trunk1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0001319Neonatal hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0030190Oral motor hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0006829Severe muscular hypotonia1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0000297Facial hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0012389Appendicular hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0031139Frog-leg posture1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0001290Generalized hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0008947Infantile muscular hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0008936Muscular hypotonia of the trunk1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0001319Neonatal hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0030190Oral motor hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0006829Severe muscular hypotonia1NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0000297Facial hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0012389Appendicular hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0031139Frog-leg posture1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0001290Generalized hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0008947Infantile muscular hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0008936Muscular hypotonia of the trunk1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0001319Neonatal hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0030190Oral motor hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0006829Severe muscular hypotonia1OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0000297Facial hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0012389Appendicular hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0031139Frog-leg posture1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0001290Generalized hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0008947Infantile muscular hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0008936Muscular hypotonia of the trunk1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0001319Neonatal hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0030190Oral motor hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0006829Severe muscular hypotonia1PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0000297Facial hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0012389Appendicular hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0031139Frog-leg posture1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0001290Generalized hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0008947Infantile muscular hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0008936Muscular hypotonia of the trunk1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0001319Neonatal hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0030190Oral motor hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0006829Severe muscular hypotonia1PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0000297Facial hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0012389Appendicular hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0031139Frog-leg posture1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0001290Generalized hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0008947Infantile muscular hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0001319Neonatal hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0030190Oral motor hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0006829Severe muscular hypotonia1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0000297Facial hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0012389Appendicular hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0031139Frog-leg posture1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0001290Generalized hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0008947Infantile muscular hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0001319Neonatal hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0030190Oral motor hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0006829Severe muscular hypotonia1PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0000297Facial hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0012389Appendicular hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0031139Frog-leg posture1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0001290Generalized hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0008947Infantile muscular hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0008936Muscular hypotonia of the trunk1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0001319Neonatal hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0030190Oral motor hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0006829Severe muscular hypotonia1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0000297Facial hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0012389Appendicular hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0031139Frog-leg posture1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0001290Generalized hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0008947Infantile muscular hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0008936Muscular hypotonia of the trunk1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0001319Neonatal hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0030190Oral motor hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0006829Severe muscular hypotonia1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0000297Facial hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0012389Appendicular hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0031139Frog-leg posture1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0001290Generalized hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0008947Infantile muscular hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0001319Neonatal hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0030190Oral motor hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0006829Severe muscular hypotonia1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0000297Facial hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0012389Appendicular hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0031139Frog-leg posture1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0001290Generalized hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0008947Infantile muscular hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0001319Neonatal hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0030190Oral motor hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0006829Severe muscular hypotonia1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0000297Facial hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0012389Appendicular hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0031139Frog-leg posture1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0001290Generalized hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0008947Infantile muscular hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0001319Neonatal hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0030190Oral motor hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0006829Severe muscular hypotonia1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0000297Facial hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0012389Appendicular hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0031139Frog-leg posture1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0001290Generalized hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0008947Infantile muscular hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0001319Neonatal hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0030190Oral motor hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0006829Severe muscular hypotonia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0000297Facial hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0012389Appendicular hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0031139Frog-leg posture1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0001290Generalized hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0008947Infantile muscular hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0008936Muscular hypotonia of the trunk1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0001319Neonatal hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0030190Oral motor hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0006829Severe muscular hypotonia1RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0000297Facial hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0012389Appendicular hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0031139Frog-leg posture1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0001290Generalized hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0008947Infantile muscular hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0008936Muscular hypotonia of the trunk1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0001319Neonatal hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0030190Oral motor hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0006829Severe muscular hypotonia1RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0000297Facial hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0012389Appendicular hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0031139Frog-leg posture1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0001290Generalized hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0008947Infantile muscular hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0008936Muscular hypotonia of the trunk1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0001319Neonatal hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0030190Oral motor hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0006829Severe muscular hypotonia1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0000297Facial hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0012389Appendicular hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0031139Frog-leg posture1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0001290Generalized hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0008947Infantile muscular hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0008936Muscular hypotonia of the trunk1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0001319Neonatal hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0030190Oral motor hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0006829Severe muscular hypotonia1RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0000297Facial hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0012389Appendicular hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0031139Frog-leg posture1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0001290Generalized hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0008947Infantile muscular hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0008936Muscular hypotonia of the trunk1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0001319Neonatal hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0030190Oral motor hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0006829Severe muscular hypotonia1SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0000297Facial hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0012389Appendicular hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0031139Frog-leg posture1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0001290Generalized hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0008947Infantile muscular hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0008936Muscular hypotonia of the trunk1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0001319Neonatal hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0030190Oral motor hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0006829Severe muscular hypotonia1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0000297Facial hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0012389Appendicular hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0031139Frog-leg posture1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0001290Generalized hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0008947Infantile muscular hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0008936Muscular hypotonia of the trunk1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0001319Neonatal hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0030190Oral motor hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0006829Severe muscular hypotonia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0000297Facial hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0012389Appendicular hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0031139Frog-leg posture1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0001290Generalized hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0008947Infantile muscular hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0008936Muscular hypotonia of the trunk1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0001319Neonatal hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0030190Oral motor hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0006829Severe muscular hypotonia1SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0000297Facial hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0012389Appendicular hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0031139Frog-leg posture1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0001290Generalized hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0008947Infantile muscular hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0008936Muscular hypotonia of the trunk1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0001319Neonatal hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0030190Oral motor hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0006829Severe muscular hypotonia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0000297Facial hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0012389Appendicular hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0031139Frog-leg posture1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0001290Generalized hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0008947Infantile muscular hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0001319Neonatal hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0030190Oral motor hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0006829Severe muscular hypotonia1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0000297Facial hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0012389Appendicular hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0031139Frog-leg posture1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0001290Generalized hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0008947Infantile muscular hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0001319Neonatal hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0030190Oral motor hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0006829Severe muscular hypotonia1SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0000297Facial hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0012389Appendicular hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0031139Frog-leg posture1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0001290Generalized hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0008947Infantile muscular hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0001319Neonatal hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0030190Oral motor hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0006829Severe muscular hypotonia1SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0000297Facial hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0012389Appendicular hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0031139Frog-leg posture1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0001290Generalized hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0008947Infantile muscular hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0001319Neonatal hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0030190Oral motor hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0006829Severe muscular hypotonia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0000297Facial hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0012389Appendicular hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0031139Frog-leg posture1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0001290Generalized hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0008947Infantile muscular hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0008936Muscular hypotonia of the trunk1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0001319Neonatal hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0030190Oral motor hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0006829Severe muscular hypotonia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0000297Facial hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0012389Appendicular hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0031139Frog-leg posture1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0001290Generalized hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0008947Infantile muscular hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0008936Muscular hypotonia of the trunk1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0001319Neonatal hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0030190Oral motor hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0006829Severe muscular hypotonia1SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0000297Facial hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0012389Appendicular hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0031139Frog-leg posture1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0001290Generalized hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0008947Infantile muscular hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0001319Neonatal hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0030190Oral motor hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0006829Severe muscular hypotonia1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0000297Facial hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0012389Appendicular hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0031139Frog-leg posture1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0001290Generalized hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0008947Infantile muscular hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0008936Muscular hypotonia of the trunk1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0001319Neonatal hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0030190Oral motor hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0006829Severe muscular hypotonia1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0000297Facial hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0012389Appendicular hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0031139Frog-leg posture1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0001290Generalized hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0008947Infantile muscular hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0008936Muscular hypotonia of the trunk1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0001319Neonatal hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0030190Oral motor hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0006829Severe muscular hypotonia1STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0000297Facial hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0012389Appendicular hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0031139Frog-leg posture1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0001290Generalized hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0008947Infantile muscular hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0008936Muscular hypotonia of the trunk1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0001319Neonatal hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0030190Oral motor hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0006829Severe muscular hypotonia1STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0000297Facial hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0012389Appendicular hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0031139Frog-leg posture1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0001290Generalized hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0008947Infantile muscular hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0008936Muscular hypotonia of the trunk1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0001319Neonatal hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0030190Oral motor hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0006829Severe muscular hypotonia1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0000297Facial hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0012389Appendicular hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0031139Frog-leg posture1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0001290Generalized hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0008947Infantile muscular hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0008936Muscular hypotonia of the trunk1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0001319Neonatal hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0030190Oral motor hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0006829Severe muscular hypotonia1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0000297Facial hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0012389Appendicular hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0031139Frog-leg posture1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0001290Generalized hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0008947Infantile muscular hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0008936Muscular hypotonia of the trunk1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0001319Neonatal hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0030190Oral motor hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0006829Severe muscular hypotonia1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0000297Facial hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0012389Appendicular hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0031139Frog-leg posture1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0001290Generalized hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0008947Infantile muscular hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0008936Muscular hypotonia of the trunk1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0001319Neonatal hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0030190Oral motor hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0006829Severe muscular hypotonia1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0000297Facial hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0012389Appendicular hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0031139Frog-leg posture1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0001290Generalized hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0008947Infantile muscular hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0001319Neonatal hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0030190Oral motor hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0006829Severe muscular hypotonia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0000297Facial hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0012389Appendicular hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0031139Frog-leg posture1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0001290Generalized hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0008947Infantile muscular hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0001319Neonatal hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0030190Oral motor hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0006829Severe muscular hypotonia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0000297Facial hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0012389Appendicular hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0031139Frog-leg posture1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0001290Generalized hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0008947Infantile muscular hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0008936Muscular hypotonia of the trunk1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0001319Neonatal hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0030190Oral motor hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0006829Severe muscular hypotonia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0000297Facial hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0012389Appendicular hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0031139Frog-leg posture1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0001290Generalized hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0008947Infantile muscular hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0008936Muscular hypotonia of the trunk1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0001319Neonatal hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0030190Oral motor hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0006829Severe muscular hypotonia1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0000297Facial hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0012389Appendicular hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0031139Frog-leg posture1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0001290Generalized hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0008947Infantile muscular hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0008936Muscular hypotonia of the trunk1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0001319Neonatal hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0030190Oral motor hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0006829Severe muscular hypotonia1TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0000297Facial hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0012389Appendicular hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0031139Frog-leg posture1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0001290Generalized hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0008947Infantile muscular hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0008936Muscular hypotonia of the trunk1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0001319Neonatal hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0030190Oral motor hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0006829Severe muscular hypotonia1TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0000297Facial hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0012389Appendicular hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0031139Frog-leg posture1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0001290Generalized hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0008947Infantile muscular hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0001319Neonatal hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0030190Oral motor hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0006829Severe muscular hypotonia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0000297Facial hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0012389Appendicular hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0031139Frog-leg posture1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0001290Generalized hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0008947Infantile muscular hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0001319Neonatal hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0030190Oral motor hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0006829Severe muscular hypotonia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0000297Facial hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0012389Appendicular hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0031139Frog-leg posture1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0001290Generalized hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0008947Infantile muscular hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0008936Muscular hypotonia of the trunk1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0001319Neonatal hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0030190Oral motor hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0006829Severe muscular hypotonia1TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0000297Facial hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0012389Appendicular hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0031139Frog-leg posture1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0001290Generalized hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0008947Infantile muscular hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0008936Muscular hypotonia of the trunk1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0001319Neonatal hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0030190Oral motor hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0006829Severe muscular hypotonia1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0000297Facial hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0012389Appendicular hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0031139Frog-leg posture1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0001290Generalized hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0008947Infantile muscular hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0008936Muscular hypotonia of the trunk1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0001319Neonatal hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0030190Oral motor hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0006829Severe muscular hypotonia1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0000297Facial hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0012389Appendicular hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0031139Frog-leg posture1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0001290Generalized hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0008947Infantile muscular hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0008936Muscular hypotonia of the trunk1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0001319Neonatal hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0030190Oral motor hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0006829Severe muscular hypotonia1WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0000297Facial hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0012389Appendicular hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0031139Frog-leg posture1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0001290Generalized hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0008947Infantile muscular hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0008936Muscular hypotonia of the trunk1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0001319Neonatal hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0030190Oral motor hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0006829Severe muscular hypotonia1WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0000297Facial hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0012389Appendicular hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0031139Frog-leg posture1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0001290Generalized hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0008947Infantile muscular hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0008936Muscular hypotonia of the trunk1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0001319Neonatal hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0030190Oral motor hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0006829Severe muscular hypotonia1ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0006852Episodic generalized hypotonia2AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0009062Infantile axial hypotonia2AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0008935Generalized neonatal hypotonia2AAAS CL E G H8086869ORPHA021713666605378
HP:0001252HP:0006852Episodic generalized hypotonia2ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0009062Infantile axial hypotonia2ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0008935Generalized neonatal hypotonia2ABCB7 CL E G H222802ORPHA029948300135
HP:0001252HP:0006852Episodic generalized hypotonia2ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0009062Infantile axial hypotonia2ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0008935Generalized neonatal hypotonia2ABCC8 CL E G H683399885ORPHA0189259600509
HP:0001252HP:0006852Episodic generalized hypotonia2ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0009062Infantile axial hypotonia2ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0008935Generalized neonatal hypotonia2ABCC8 CL E G H683399886ORPHA0189259600509
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0009062Infantile axial hypotonia2ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH18A1 CL E G H5832447757ORPHA05869722138250
HP:0001252HP:0006852Episodic generalized hypotonia2ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0009062Infantile axial hypotonia2ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0008935Generalized neonatal hypotonia2ALDH3A2 CL E G H224816ORPHA0635403609523
HP:0001252HP:0006852Episodic generalized hypotonia2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0009062Infantile axial hypotonia2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0008935Generalized neonatal hypotonia2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA04706211300836
HP:0001252HP:0006852Episodic generalized hypotonia2BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0009062Infantile axial hypotonia2BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0008935Generalized neonatal hypotonia2BDNF CL E G H627661ORPHA0831033113505
HP:0001252HP:0006852Episodic generalized hypotonia2BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0009062Infantile axial hypotonia2BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0008935Generalized neonatal hypotonia2BMP2 CL E G H650261295ORPHA01711069112261
HP:0001252HP:0006852Episodic generalized hypotonia2BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0009062Infantile axial hypotonia2BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0008935Generalized neonatal hypotonia2BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01971071112262
HP:0001252HP:0006852Episodic generalized hypotonia2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0009062Infantile axial hypotonia2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0008935Generalized neonatal hypotonia2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA010831148602452
HP:0001252HP:0006852Episodic generalized hypotonia2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0009062Infantile axial hypotonia2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0008935Generalized neonatal hypotonia2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA015291149602860
HP:0001252HP:0006852Episodic generalized hypotonia2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0009062Infantile axial hypotonia2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0008935Generalized neonatal hypotonia2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA03791151603719
HP:0001252HP:0006852Episodic generalized hypotonia2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0009062Infantile axial hypotonia2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0008935Generalized neonatal hypotonia2C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM01184616082
HP:0001252HP:0006852Episodic generalized hypotonia2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0009062Infantile axial hypotonia2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0008935Generalized neonatal hypotonia2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA028126821616031
HP:0001252HP:0006852Episodic generalized hypotonia2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0009062Infantile axial hypotonia2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0008935Generalized neonatal hypotonia2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA040230794607951
HP:0001252HP:0006852Episodic generalized hypotonia2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0009062Infantile axial hypotonia2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0008935Generalized neonatal hypotonia2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA0293020626608892
HP:0001252HP:0006852Episodic generalized hypotonia2CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0009062Infantile axial hypotonia2CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0008935Generalized neonatal hypotonia2CHRNA7 CL E G H1139199318ORPHA03841960118511
HP:0001252HP:0006852Episodic generalized hypotonia2CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0009062Infantile axial hypotonia2CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0008935Generalized neonatal hypotonia2CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM03841960118511
HP:0001252HP:0006852Episodic generalized hypotonia2COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0009062Infantile axial hypotonia2COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0008935Generalized neonatal hypotonia2COL1A1 CL E G H1277287ORPHA024282197120150
HP:0001252HP:0006852Episodic generalized hypotonia2COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0009062Infantile axial hypotonia2COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0008935Generalized neonatal hypotonia2COL5A1 CL E G H1289287ORPHA029092209120215
HP:0001252HP:0006852Episodic generalized hypotonia2COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0009062Infantile axial hypotonia2COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0008935Generalized neonatal hypotonia2COL5A2 CL E G H1290287ORPHA015132210120190
HP:0001252HP:0006852Episodic generalized hypotonia2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0009062Infantile axial hypotonia2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0008935Generalized neonatal hypotonia2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA02592701120470
HP:0001252HP:0006852Episodic generalized hypotonia2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0009062Infantile axial hypotonia2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0008935Generalized neonatal hypotonia2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM04582845600594
HP:0001252HP:0006852Episodic generalized hypotonia2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0009062Infantile axial hypotonia2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0008935Generalized neonatal hypotonia2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM03612846601279
HP:0001252HP:0006852Episodic generalized hypotonia2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0009062Infantile axial hypotonia2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0008935Generalized neonatal hypotonia2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM04422847609030
HP:0001252HP:0006852Episodic generalized hypotonia2DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0009062Infantile axial hypotonia2DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0008935Generalized neonatal hypotonia2DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM052123406610746
HP:0001252HP:0006852Episodic generalized hypotonia2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0009062Infantile axial hypotonia2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0008935Generalized neonatal hypotonia2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA0663072602748
HP:0001252HP:0006852Episodic generalized hypotonia2EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0009062Infantile axial hypotonia2EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0008935Generalized neonatal hypotonia2EDN3 CL E G H1908661ORPHA01703178131242
HP:0001252HP:0006852Episodic generalized hypotonia2EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0009062Infantile axial hypotonia2EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0008935Generalized neonatal hypotonia2EMD CL E G H201098863ORPHA06953331300384
HP:0001252HP:0006852Episodic generalized hypotonia2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0009062Infantile axial hypotonia2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0008935Generalized neonatal hypotonia2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM044316817601755
HP:0001252HP:0006852Episodic generalized hypotonia2EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0009062Infantile axial hypotonia2EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0008935Generalized neonatal hypotonia2EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA08573512608177
HP:0001252HP:0006852Episodic generalized hypotonia2FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0009062Infantile axial hypotonia2FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0008935Generalized neonatal hypotonia2FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM016917800609690
HP:0001252HP:0006852Episodic generalized hypotonia2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0009062Infantile axial hypotonia2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0008935Generalized neonatal hypotonia2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA010922788613301
HP:0001252HP:0006852Episodic generalized hypotonia2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0009062Infantile axial hypotonia2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0008935Generalized neonatal hypotonia2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA01193673603725
HP:0001252HP:0006852Episodic generalized hypotonia2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0009062Infantile axial hypotonia2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0008935Generalized neonatal hypotonia2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0983686600483
HP:0001252HP:0006852Episodic generalized hypotonia2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0009062Infantile axial hypotonia2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0008935Generalized neonatal hypotonia2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA09363688136350
HP:0001252HP:0006852Episodic generalized hypotonia2FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0009062Infantile axial hypotonia2FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0008935Generalized neonatal hypotonia2FHL1 CL E G H227398863ORPHA05863702300163
HP:0001252HP:0006852Episodic generalized hypotonia2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0009062Infantile axial hypotonia2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0008935Generalized neonatal hypotonia2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA0773762604808
HP:0001252HP:0006852Episodic generalized hypotonia2GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0009062Infantile axial hypotonia2GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0008935Generalized neonatal hypotonia2GCK CL E G H264599885ORPHA09474195138079
HP:0001252HP:0006852Episodic generalized hypotonia2GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0009062Infantile axial hypotonia2GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0008935Generalized neonatal hypotonia2GDNF CL E G H2668661ORPHA01374232600837
HP:0001252HP:0006852Episodic generalized hypotonia2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0009062Infantile axial hypotonia2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0008935Generalized neonatal hypotonia2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001252HP:0006852Episodic generalized hypotonia2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0009062Infantile axial hypotonia2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0008935Generalized neonatal hypotonia2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA09894451300037
HP:0001252HP:0006852Episodic generalized hypotonia2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0009062Infantile axial hypotonia2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0008935Generalized neonatal hypotonia2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA02434452300168
HP:0001252HP:0006852Episodic generalized hypotonia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0009062Infantile axial hypotonia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0008935Generalized neonatal hypotonia2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA038113315300269
HP:0001252HP:0006852Episodic generalized hypotonia2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0009062Infantile axial hypotonia2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0008935Generalized neonatal hypotonia2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA01124877601802
HP:0001252HP:0006852Episodic generalized hypotonia2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0009062Infantile axial hypotonia2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0008935Generalized neonatal hypotonia2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0001252HP:0006852Episodic generalized hypotonia2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0009062Infantile axial hypotonia2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0008935Generalized neonatal hypotonia2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA01125201604846
HP:0001252HP:0006852Episodic generalized hypotonia2HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0009062Infantile axial hypotonia2HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0008935Generalized neonatal hypotonia2HYMAI CL E G H5706199886ORPHA0185326606546
HP:0001252HP:0006852Episodic generalized hypotonia2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0009062Infantile axial hypotonia2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0008935Generalized neonatal hypotonia2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03875961300248
HP:0001252HP:0006852Episodic generalized hypotonia2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0009062Infantile axial hypotonia2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0008935Generalized neonatal hypotonia2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA016317616606807
HP:0001252HP:0006852Episodic generalized hypotonia2INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0009062Infantile axial hypotonia2INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0008935Generalized neonatal hypotonia2INS CL E G H363099885ORPHA01856081176730
HP:0001252HP:0006852Episodic generalized hypotonia2KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0009062Infantile axial hypotonia2KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNJ11 CL E G H376799885ORPHA04356257600937
HP:0001252HP:0006852Episodic generalized hypotonia2KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0009062Infantile axial hypotonia2KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0008935Generalized neonatal hypotonia2KCNJ11 CL E G H376799886ORPHA04356257600937
HP:0001252HP:0006852Episodic generalized hypotonia2KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0009062Infantile axial hypotonia2KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0008935Generalized neonatal hypotonia2KIF22 CL E G H383593360ORPHA05136391603213
HP:0001252HP:0006852Episodic generalized hypotonia2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0009062Infantile axial hypotonia2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0008935Generalized neonatal hypotonia2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA01544510604161
HP:0001252HP:0006852Episodic generalized hypotonia2KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0009062Infantile axial hypotonia2KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0008935Generalized neonatal hypotonia2KIT CL E G H38152884ORPHA024886342164920
HP:0001252HP:0006852Episodic generalized hypotonia2KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0009062Infantile axial hypotonia2KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0008935Generalized neonatal hypotonia2KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM025313672605328
HP:0001252HP:0006852Episodic generalized hypotonia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0009062Infantile axial hypotonia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0008935Generalized neonatal hypotonia2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA020737132159555
HP:0001252HP:0006852Episodic generalized hypotonia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0009062Infantile axial hypotonia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0008935Generalized neonatal hypotonia2LAGE3 CL E G H82702065ORPHA027026058300060
HP:0001252HP:0006852Episodic generalized hypotonia2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0009062Infantile axial hypotonia2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0008935Generalized neonatal hypotonia2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0001252HP:0006852Episodic generalized hypotonia2LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0009062Infantile axial hypotonia2LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0008935Generalized neonatal hypotonia2LIFR CL E G H39773206ORPHA09456597151443
HP:0001252HP:0006852Episodic generalized hypotonia2LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0009062Infantile axial hypotonia2LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0008935Generalized neonatal hypotonia2LMBR1 CL E G H643272378ORPHA042213243605522
HP:0001252HP:0006852Episodic generalized hypotonia2LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0009062Infantile axial hypotonia2LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0008935Generalized neonatal hypotonia2LMNA CL E G H400090153ORPHA018146636150330
HP:0001252HP:0006852Episodic generalized hypotonia2LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0009062Infantile axial hypotonia2LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0008935Generalized neonatal hypotonia2LMNA CL E G H400098853ORPHA018146636150330
HP:0001252HP:0006852Episodic generalized hypotonia2LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0009062Infantile axial hypotonia2LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0008935Generalized neonatal hypotonia2LMNA CL E G H400098855ORPHA018146636150330
HP:0001252HP:0006852Episodic generalized hypotonia2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0009062Infantile axial hypotonia2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0008935Generalized neonatal hypotonia2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA030915455300294
HP:0001252HP:0006852Episodic generalized hypotonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0009062Infantile axial hypotonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001252HP:0006852Episodic generalized hypotonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0009062Infantile axial hypotonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001252HP:0006852Episodic generalized hypotonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0009062Infantile axial hypotonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001252HP:0006852Episodic generalized hypotonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0009062Infantile axial hypotonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001252HP:0006852Episodic generalized hypotonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0009062Infantile axial hypotonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001252HP:0006852Episodic generalized hypotonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0009062Infantile axial hypotonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001252HP:0006852Episodic generalized hypotonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0009062Infantile axial hypotonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0009062Infantile axial hypotonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0009062Infantile axial hypotonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0009062Infantile axial hypotonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0009062Infantile axial hypotonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0009062Infantile axial hypotonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0009062Infantile axial hypotonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001252HP:0006852Episodic generalized hypotonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0009062Infantile axial hypotonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0008935Generalized neonatal hypotonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001252HP:0006852Episodic generalized hypotonia2MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0009062Infantile axial hypotonia2MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0008935Generalized neonatal hypotonia2MYO1H CL E G H283446661ORPHA08613879614636
HP:0001252HP:0006852Episodic generalized hypotonia2NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0009062Infantile axial hypotonia2NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0008935Generalized neonatal hypotonia2NDP CL E G H4693649ORPHA02997678300658
HP:0001252HP:0006852Episodic generalized hypotonia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0009062Infantile axial hypotonia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0008935Generalized neonatal hypotonia2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA0154228862608667
HP:0001252HP:0006852Episodic generalized hypotonia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0009062Infantile axial hypotonia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0008935Generalized neonatal hypotonia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001252HP:0006852Episodic generalized hypotonia2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0009062Infantile axial hypotonia2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0008935Generalized neonatal hypotonia2NOTCH3 CL E G H48542789ORPHA013437883600276
HP:0001252HP:0006852Episodic generalized hypotonia2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0009062Infantile axial hypotonia2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0008935Generalized neonatal hypotonia2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA019729843608137
HP:0001252HP:0006852Episodic generalized hypotonia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0009062Infantile axial hypotonia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0008935Generalized neonatal hypotonia2NUP107 CL E G H571222065ORPHA024229914607617
HP:0001252HP:0006852Episodic generalized hypotonia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0009062Infantile axial hypotonia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0008935Generalized neonatal hypotonia2OSGEP CL E G H556442065ORPHA015218028610107
HP:0001252HP:0006852Episodic generalized hypotonia2PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0009062Infantile axial hypotonia2PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0008935Generalized neonatal hypotonia2PDX1 CL E G H365199885ORPHA01706107600733
HP:0001252HP:0006852Episodic generalized hypotonia2PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0009062Infantile axial hypotonia2PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0008935Generalized neonatal hypotonia2PHOX2B CL E G H8929661ORPHA09809143603851
HP:0001252HP:0006852Episodic generalized hypotonia2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0009062Infantile axial hypotonia2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0008935Generalized neonatal hypotonia2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0001252HP:0006852Episodic generalized hypotonia2PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0009062Infantile axial hypotonia2PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0008935Generalized neonatal hypotonia2PLAGL1 CL E G H532599886ORPHA0489046603044
HP:0001252HP:0006852Episodic generalized hypotonia2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0009062Infantile axial hypotonia2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0008935Generalized neonatal hypotonia2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA06518455607002
HP:0001252HP:0006852Episodic generalized hypotonia2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0009062Infantile axial hypotonia2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0008935Generalized neonatal hypotonia2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA016015836607123
HP:0001252HP:0006852Episodic generalized hypotonia2PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0009062Infantile axial hypotonia2PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0008935Generalized neonatal hypotonia2PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0001252HP:0006852Episodic generalized hypotonia2PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0009062Infantile axial hypotonia2PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0008935Generalized neonatal hypotonia2PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA030129588601728
HP:0001252HP:0006852Episodic generalized hypotonia2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0009062Infantile axial hypotonia2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0008935Generalized neonatal hypotonia2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM01129801602048
HP:0001252HP:0006852Episodic generalized hypotonia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0009062Infantile axial hypotonia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0008935Generalized neonatal hypotonia2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA03529811606462
HP:0001252HP:0006852Episodic generalized hypotonia2RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0009062Infantile axial hypotonia2RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0008935Generalized neonatal hypotonia2RARB CL E G H59152470ORPHA01139865180220
HP:0001252HP:0006852Episodic generalized hypotonia2RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0009062Infantile axial hypotonia2RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0008935Generalized neonatal hypotonia2RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM029729957600514
HP:0001252HP:0006852Episodic generalized hypotonia2RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0009062Infantile axial hypotonia2RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0008935Generalized neonatal hypotonia2RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM026134016601428
HP:0001252HP:0006852Episodic generalized hypotonia2RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0009062Infantile axial hypotonia2RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0008935Generalized neonatal hypotonia2RPS6KA3 CL E G H6197276630ORPHA051510432300075
HP:0001252HP:0006852Episodic generalized hypotonia2SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0009062Infantile axial hypotonia2SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0008935Generalized neonatal hypotonia2SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001252HP:0006852Episodic generalized hypotonia2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0009062Infantile axial hypotonia2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0008935Generalized neonatal hypotonia2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA021410723603961
HP:0001252HP:0006852Episodic generalized hypotonia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0009062Infantile axial hypotonia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0008935Generalized neonatal hypotonia2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA090925566615743
HP:0001252HP:0006852Episodic generalized hypotonia2SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0009062Infantile axial hypotonia2SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0008935Generalized neonatal hypotonia2SH2B1 CL E G H25970261197ORPHA027930417608937
HP:0001252HP:0006852Episodic generalized hypotonia2SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0009062Infantile axial hypotonia2SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0008935Generalized neonatal hypotonia2SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0001252HP:0006852Episodic generalized hypotonia2SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0009062Infantile axial hypotonia2SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001252HP:0006852Episodic generalized hypotonia2SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0009062Infantile axial hypotonia2SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM057113444606145
HP:0001252HP:0006852Episodic generalized hypotonia2SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0009062Infantile axial hypotonia2SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0008935Generalized neonatal hypotonia2SLC34A1 CL E G H6569616963Hypercalcemia, infantile, 2616963C4310473OMIM039511019182309
HP:0001252HP:0006852Episodic generalized hypotonia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0009062Infantile axial hypotonia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0008935Generalized neonatal hypotonia2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA093911111300040
HP:0001252HP:0006852Episodic generalized hypotonia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0009062Infantile axial hypotonia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0008935Generalized neonatal hypotonia2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA04722468606062
HP:0001252HP:0006852Episodic generalized hypotonia2SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0009062Infantile axial hypotonia2SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0008935Generalized neonatal hypotonia2SNAI2 CL E G H65912884ORPHA010111094602150
HP:0001252HP:0006852Episodic generalized hypotonia2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0009062Infantile axial hypotonia2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0008935Generalized neonatal hypotonia2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA037811190602229
HP:0001252HP:0006852Episodic generalized hypotonia2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0009062Infantile axial hypotonia2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0008935Generalized neonatal hypotonia2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA07815533607984
HP:0001252HP:0006852Episodic generalized hypotonia2STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0009062Infantile axial hypotonia2STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0008935Generalized neonatal hypotonia2STAT3 CL E G H677499885ORPHA063911364102582
HP:0001252HP:0006852Episodic generalized hypotonia2STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0009062Infantile axial hypotonia2STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0008935Generalized neonatal hypotonia2STRA6 CL E G H642202470ORPHA029430650610745
HP:0001252HP:0006852Episodic generalized hypotonia2STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0009062Infantile axial hypotonia2STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0008935Generalized neonatal hypotonia2STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM034030172608626
HP:0001252HP:0006852Episodic generalized hypotonia2SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0009062Infantile axial hypotonia2SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0008935Generalized neonatal hypotonia2SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001252HP:0006852Episodic generalized hypotonia2SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0009062Infantile axial hypotonia2SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0008935Generalized neonatal hypotonia2SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001252HP:0006852Episodic generalized hypotonia2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0009062Infantile axial hypotonia2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0008935Generalized neonatal hypotonia2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA013211528162332
HP:0001252HP:0006852Episodic generalized hypotonia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0009062Infantile axial hypotonia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0008935Generalized neonatal hypotonia2TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM050229529608628
HP:0001252HP:0006852Episodic generalized hypotonia2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0009062Infantile axial hypotonia2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0008935Generalized neonatal hypotonia2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM0116911592602054
HP:0001252HP:0006852Episodic generalized hypotonia2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0009062Infantile axial hypotonia2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0008935Generalized neonatal hypotonia2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001252HP:0006852Episodic generalized hypotonia2TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0009062Infantile axial hypotonia2TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0008935Generalized neonatal hypotonia2TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001252HP:0006852Episodic generalized hypotonia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0009062Infantile axial hypotonia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0008935Generalized neonatal hypotonia2TP53RK CL E G H1128582065ORPHA07016197608679
HP:0001252HP:0006852Episodic generalized hypotonia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0009062Infantile axial hypotonia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0008935Generalized neonatal hypotonia2TPRKB CL E G H510022065ORPHA04624259608680
HP:0001252HP:0006852Episodic generalized hypotonia2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0009062Infantile axial hypotonia2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0008935Generalized neonatal hypotonia2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001252HP:0006852Episodic generalized hypotonia2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0009062Infantile axial hypotonia2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0008935Generalized neonatal hypotonia2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA022812307604507
HP:0001252HP:0006852Episodic generalized hypotonia2TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0009062Infantile axial hypotonia2TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0008935Generalized neonatal hypotonia2TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA054212340604386
HP:0001252HP:0006852Episodic generalized hypotonia2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0009062Infantile axial hypotonia2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0008935Generalized neonatal hypotonia2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0001252HP:0006852Episodic generalized hypotonia2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0009062Infantile axial hypotonia2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0008935Generalized neonatal hypotonia2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA036913831606417
HP:0001252HP:0006852Episodic generalized hypotonia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0009062Infantile axial hypotonia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0008935Generalized neonatal hypotonia2WDR4 CL E G H107852065ORPHA028212756605924
HP:0001252HP:0006852Episodic generalized hypotonia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0009062Infantile axial hypotonia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0008935Generalized neonatal hypotonia2WDR73 CL E G H849422065ORPHA022025928616144
HP:0001252HP:0006852Episodic generalized hypotonia2ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0009062Infantile axial hypotonia2ZFP57 CL E G H34617199886ORPHA011218791612192
HP:0001252HP:0008935Generalized neonatal hypotonia2ZFP57 CL E G H34617199886ORPHA011218791612192


Genes (1261) :A2ML1 AAAS AARS AASS ABAT ABCB7 ABCC8 ABCD4 ACACA ACAD8 ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAT2 ACO2 ACOX1 ACP2 ACSL4 ACTA1 ACTB ACY1 ADAMTS2 ADAR ADAT3 ADCY5 ADCY6 ADK ADNP ADSL AGA AGK AGTPBP1 AHCY AHDC1 AHI1 AHSG AIFM1 AIMP1 AIPL1 ALDH18A1 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALPL AMER1 AMMECR1 AMPD1 AMPD2 AMT ANK3 ANOS1 ANTXR2 AP1S1 AP1S2 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APOPT1 AR ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARSA ARV1 ARVCF ARX ASCC1 ASCL1 ASNS ASPA ASXL1 ASXL2 ATAD3A ATCAY ATIC ATP1A3 ATP2B3 ATP5F1A ATP6 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP8 ATP8A2 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN7 B3GALNT2 B3GALT6 B3GAT3 B4GALT1 B4GALT7 B4GAT1 B9D1 BAZ1B BCKDHA BCKDHB BCL11B BCOR BCS1L BDNF BICD2 BIN1 BMP1 BMP2 BMP4 BMPER BOLA3 BPTF BRAF BRPF1 BRWD3 BSND BTD BUB1 BUB1B BUB3 C12ORF4 C12ORF57 C12ORF65 C19ORF12 CA8 CACNA1A CACNA1C CACNA1E CAD CAMKMT CAMTA1 CANT1 CARS2 CASK CASR CBL CC2D2A CCDC115 CCDC141 CCDC174 CCDC22 CCDC47 CCDC78 CCDC88A CD59 CD96 CDC42 CDK13 CDKL5 CDKN1C CEP104 CEP120 CEP290 CEP41 CEP57 CFL2 CHAMP1 CHAT CHD1 CHD4 CHD7 CHKB CHMP1A CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHST14 CHST3 CKAP2L CLCN4 CLCNKA CLCNKB CLIP2 CLP1 CLPB CLTC CNKSR2 CNTN1 CNTNAP1 COA6 COA7 COA8 COG1 COG4 COG5 COG6 COG7 COG8 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL4A1 COL4A3BP COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMT COQ4 COQ7 COQ8A COQ9 COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 COX8A CPLANE1 CPLX1 CPS1 CPT1A CPT2 CRB1 CREBBP CRPPA CRX CSNK2A1 CSPP1 CTBP1 CTCF CTNNB1 CTNND2 CTNS CTU2 CUL4B CWF19L1 CYFIP2 CYP24A1 CYP27B1 CYP2R1 D2HGDH DAG1 DARS DBT DCC DCHS1 DCPS DCX DDC DDOST DDR2 DDX11 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DGUOK DHCR7 DHDDS DHFR DHTKD1 DIAPH1 DIS3L2 DLAT DLD DLG3 DMD DMPK DNA2 DNAJC12 DNAJC19 DNAJC21 DNM1 DNM1L DNM2 DNMT3A DOCK6 DOLK DPAGT1 DPF2 DPM1 DPM2 DPYD DSE DST DUOX2 DUOXA2 DUSP6 DYNC1H1 DYRK1A EARS2 EBF3 EBP ECHS1 EDN1 EDN3 EDNRB EEF1A2 EFEMP2 EFL1 EFNB1 EGR2 EHMT1 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 ELAC2 ELN ELP1 ELP2 EMC1 EMD EP300 EPCAM EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERCC6L2 ERF ERMARD ESS2 ETFA ETFB ETFDH ETHE1 EXOSC3 EXOSC9 EXT1 EXT2 EXTL3 EZH2 FAM126A FAN1 FAR1 FARS2 FARSB FASTKD2 FAT4 FBN1 FBP1 FBXL4 FDX2 FEZF1 FGF12 FGF17 FGF8 FGFR1 FGFR3 FGFRL1 FH FHL1 FIG4 FKBP14 FKRP FKTN FLAD1 FLCN FLII FLNA FLRT3 FLVCR1 FMN2 FMR1 FOXE1 FOXG1 FOXP1 FOXRED1 FRA16E FRRS1L FUCA1 GAA GABRA1 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GALC GALE GAMT GAN GATA1 GATA6 GATAD2B GBA GBE1 GCDH GCH1 GCK GCSH GDF6 GDI1 GDNF GFER GFM1 GFPT1 GJC2 GLDC GLRX5 GLUL GLYCTK GM2A GMPPA GMPPB GNAI3 GNB1 GNB5 GNE GNPAT GNPTAB GORAB GP1BB GPC3 GPC4 GPHN GPT2 GPX4 GRIA4 GRID2 GRIN2B GRIN2D GRM1 GTF2I GTF2IRD1 GTPBP2 GTPBP3 GUCY2D GUSB HACD1 HACE1 HADH HADHA HADHB HBA1 HBA2 HCFC1 HCN1 HDAC4 HDAC8 HECW2 HEPACAM HERC1 HERC2 HESX1 HEXA HIBCH HIKESHI HIRA HIST1H1E HIVEP2 HLCS HMGA2 HNF1A HNF4A HNRNPH2 HNRNPK HNRNPU HPD HPRT1 HRAS HS6ST1 HSD17B10 HSD17B4 HSPD1 HTRA2 HTT HYLS1 HYMAI IARS IBA57 IDH2 IDUA IER3IP1 IFIH1 IFT140 IFT81 IGF2 IKBKG IL17RD IMPDH1 INPP5E INPP5K INPPL1 INS IPW IQCB1 IQSEC2 ISCA2 ISPD ITGA3 ITGA7 ITGB6 ITPA ITPR1 IYD JMJD1C KANK1 KANSL1 KAT6A KAT6B KBTBD13 KCNA2 KCNAB2 KCNB1 KCNC3 KCNE5 KCNH1 KCNJ10 KCNJ11 KCNJ13 KCNK9 KCNMA1 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF11 KIF1A KIF1BP KIF22 KIF5A KIF7 KISS1R KIT KLF13 KLHL40 KLHL41 KMT2A KMT2D KPTN KRAS L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LARGE1 LARS LAS1L LCA5 LEMD3 LETM1 LGI4 LHX3 LHX4 LIAS LIFR LIMK1 LINS1 LIPT1 LMBR1 LMBRD1 LMNA LMOD3 LONP1 LRAT LRP5 LRPPRC LTBP4 LTC4S LYRM4 LYRM7 LZTR1 MAG MAGEL2 MAN2B1 MANBA MAP2K1 MAP2K2 MAP3K20 MAPRE2 MARS2 MBD5 MBOAT7 MBTPS2 MCCC1 MCCC2 MCM3AP MCOLN1 MECP2 MED12 MED13L MED25 MEF2C MEGF10 MFF MFSD2A MGAT2 MIPEP MITF MKRN3 MKRN3-AS1 MKS1 MLH1 MLH3 MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMUT MOGS MORC2 MPC1 MPDU1 MPI MPLKIP MPV17 MPZ MRE11 MRPS16 MRPS22 MRPS34 MSH2 MSH6 MSTO1 MT-ATP8 MT-TL1 MT-TN MT-TS1 MT-TW MTFMT MTM1 MTMR14 MTO1 MTOR MTR MTRR MTTP MUSK MVK MYF6 MYH7 MYL2 MYMK MYO18B MYO1H MYO5A MYOT MYPN NAA10 NACC1 NADK2 NAGA NALCN NANS NARS2 NAT8L NAXE NBAS ND1 ND4 ND5 ND6 NDN NDP NDST1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFB3 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEK1 NELFA NEU1 NEXMIF NFIA NFIX NGLY1 NHLRC2 NIPBL NKX2-1 NKX2-5 NKX6-2 NMNAT1 NONO NOP56 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NRAS NRXN1 NSD1 NSD2 NSDHL NSMCE3 NSMF NSUN2 NTRK2 NUP107 NUP62 NUS1 OCLN OCRL OFD1 OGDH OPA1 OPHN1 ORAI1 OSGEP OSTM1 OTUD6B OTX2 P4HB PACS1 PAFAH1B1 PAM16 PAX6 PAX8 PC PCBD1 PCCA PCCB PCDH12 PCDH19 PCLO PCYT1A PDE10A PDE6D PDHA1 PDHB PDHX PDP1 PDSS2 PDX1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM3 PHF6 PHKB PHKG2 PHOX2B PHYH PIBF1 PIEZO2 PIGA PIGG PIGH PIGL PIGN PIGO PIGS PIGT PIGV PIGY PIK3CA PIK3R2 PLA2G6 PLAGL1 PLCB1 PLCB4 PLEKHG2 PLOD1 PLP1 PLPBP PLXND1 PMM2 PMP22 PMPCA PMS1 PMS2 PNKP PNP PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POGZ POLG POLG2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPA2 PPM1B PPM1D PPP1CB PPP2R1A PPP2R5D PPP3CA PPT1 PRDM16 PRDM5 PRDX1 PREPL PRF1 PRKCG PRKD1 PRMT7 PRNP PRODH PROK2 PROKR2 PROP1 PRPS1 PRRT2 PRUNE1 PRX PSAP PSMD12 PTCH1 PTDSS1 PTEN PTPN11 PTRH2 PTS PUF60 PURA PUS1 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 PYROXD1 QARS QDPR RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAF1 RAI1 RAP1A RAP1B RAPSN RARB RARS RARS2 RASA2 RB1 RBM10 RD3 RDH12 RELN RERE RET RETREG1 REV3L RFC2 RFT1 RIN2 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF125 RNF216 RNU12 RNU4ATAC RPE65 RPGRIP1 RPGRIP1L RPL10 RPS23 RPS6KA3 RRAS RREB1 RRM2B RSPRY1 RUSC2 RXYLT1 RYR1 SAMHD1 SARS2 SATB2 SBDS SC5D SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO1 SCO2 SDHA SDHAF1 SDHB SDHD SEC24C SEC24D SELENON SEMA3A SEMA3E SEMA5A SERAC1 SERPINH1 SET SETD2 SETD5 SFXN4 SGCE SGPL1 SH2B1 SHANK3 SHOC2 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A26 SLC25A3 SLC25A4 SLC25A46 SLC26A2 SLC26A4 SLC2A10 SLC30A9 SLC33A1 SLC34A1 SLC34A3 SLC35A2 SLC35A3 SLC35C1 SLC39A14 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A19 SLC6A3 SLC6A8 SLC6A9 SLC7A7 SLC9A6 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMG9 SMPD1 SMS SNAI2 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNRPN SNX14 SON SOS1 SOS2 SOX10 SOX11 SOX2 SOX5 SOX9 SPARC SPART SPATA5 SPATA7 SPECC1L SPEG SPR SPRED1 SPRY4 SPTAN1 SPTBN2 SPTBN4 SRD5A3 SRP54 SSR4 ST3GAL3 ST3GAL5 STAMBP STAT3 STIM1 STRA6 STRADA STT3A STT3B STX11 STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SURF1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SZT2 TACO1 TACR3 TAF1 TAF6 TANGO2 TARS2 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX4 TCF4 TCTN1 TCTN2 TCTN3 TDP2 TECPR2 TELO2 TG TGFB3 TGFBR2 TH THOC2 THRA THRB TIMM50 TK2 TKT TMCO1 TMEM106B TMEM138 TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM43 TMEM67 TMEM70 TMTC3 TNFRSF11A TNNT1 TNXB TOE1 TOR1A TP53RK TPI1 TPK1 TPM2 TPM3 TPO TPRKB TRAF7 TRAK1 TRAPPC11 TRAPPC9 TREX1 TRHR TRIM2 TRIM37 TRIP13 TRIP4 TRMT1 TRMT10C TRMT5 TRMU TRNE TRNF TRNH TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNW TRPS1 TRPV4 TSEN15 TSEN2 TSFM TSHB TSHR TTN TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUFM TULP1 TWNK TXN2 UBA1 UBA5 UBE3A UBE3B UBR1 UFD1 UGT1A1 UNC80 UPB1 UPF3B UQCC2 UQCC3 UQCRQ USP18 USP9X VAC14 VARS2 VDR VIPAS39 VLDLR VMA21 VPS11 VPS13A VPS13B VPS13D VPS33B VPS53 VRK1 WAC WARS2 WASHC5 WDR11 WDR4 WDR73 WDR81 WHCR WNK1 WWOX XYLT1 XYLT2 YARS2 YME1L1 YWHAE YWHAG ZBTB18 ZBTB20 ZC4H2 ZDHHC15 ZDHHC9 ZEB2 ZFP57 ZIC1 ZNF148 ZNF423 ZNF469 ZNF592 ZNHIT3 ZSWIM6

Diseases (1289) :648 869 238700 2802 99886 99885 611283 201450 201470 610006 201475 2971 200950 86818 2020 243310 137754 609924 1901 2680 208400 212350 220493 475 608629 2850 65 447757 219150 816 22 271980 3006 266100 608540 79324 79321 79320 79328 241500 605899 478 2176 85335 821 481 100300 1465 135900 612291 250100 567 452 300215 99803 314911 271900 605039 601238 608688 219200 278250 198 565 480 1766 604273 847 164400 183090 899 588 75496 271640 245600 79332 607091 130070 904 248600 256000 124000 661 261295 607932 115150 1340 300659 602522 79241 253260 1052 618221 163693 251450 417 239200 2318 216360 1454 7 211750 1308 300672 85173 610188 610687 138 199318 612001 3255 613090 616501 220110 611209 613612 79333 611182 287 1899 130060 183900 98915 603034 616733 550 255241 277170 147 156 255120 228308 180849 281 264700 600081 600721 2148 819 192430 251880 818 2849 310200 273 160900 610768 86309 608093 79322 608799 274270 95716 614563 277580 1520 304110 145900 96147 1667 603896 85282 194050 1764 223900 98863 144 1493 242840 1466 214150 3267 231680 602473 502 277590 613658 2462 284979 229700 251900 1860 93274 15 187600 606812 614557 236670 253800 611588 272 261483 908 95713 261144 349 232300 33069 1606 245200 230350 190685 85212 232500 25 231670 272750 363623 222765 2078 373 312870 584 616756 746 609016 609015 98791 1001 199 226307 88639 79242 253270 94063 238769 2118 300322 2612 300438 612233 613657 93473 182250 464 213300 559 2746 258480 614748 1065 612900 3047 606170 605259 611816 135500 612780 612292 306 439218 2322 147920 300867 2526 201300 66629 93360 603546 2884 319182 3339 79314 2065 607855 609049 608840 309585 280 3206 601559 2378 79284 277380 157973 98855 90153 98853 1458 600373 259770 220111 614037 248500 615279 615280 228402 2273 210200 6 210210 578 252650 776 228384 248360 251100 251110 277400 277410 79312 289916 251000 606056 79323 602579 611719 596 2169 236270 14 29 610377 1358 33445 214450 79279 609241 610442 614800 649 252010 812 256550 602535 610978 95712 614153 2789 257220 607625 220497 300209 203740 137831 300486 612782 2050 217385 95720 218700 266150 264070 312170 608782 772 44 214100 266510 214110 773 127 301900 613027 2461 248700 280000 239300 60040 602501 35069 256600 225400 312080 570 212065 1170 613179 1173 726 203700 613038 616362 256730 163690 239500 1187 300661 139406 249900 77301 2658 151050 109 13 2598 261630 2510 600118 617751 1713 2470 1587 257320 162300 244310 613075 175 616651 435938 276630 303600 192 597 255320 251019 46059 607330 604377 602771 261197 1935 171829 613406 157170 206900 182212 604369 269920 212140 99742 91130 610773 628 3342 208050 616963 241530 266265 229050 97229 211530 2116 52503 222700 257200 309583 609528 163746 313892 114290 616507 145410 609056 612783 601186 611087 612073 245400 220500 602342 1727 261279 2896 610954 97927 609560 213980 608091 610688 1194 230839 128100 868 609285 352530 253250 77258 1216 90674 275100 90673 271245 1145 301830 238446 105830 2315 243800 277440 224050 2388 193 208085 607596 220210 83472 251300 442835 616339 613163 79134 606176 614857 613933 99901 611126 99900 614055 614559 264470 171430 171439 97240 171436 171433 97244 255310 161800 51 225154 615286 324588 606703 616287 614300 615873 46 103050 618276 88618 615829 238329 300816 260600 616603 614105 613661 607143 324422 300884 353327 616228 601110 603147 608104 608776 300373 615511 615809 615493 609313 85329 304340 617276 617050 280763 614066 613744 612936 614067 261584 608097 614607 251056 617808 309271 309263 309256 617020 308350 300004 616867 615574 617190 496790 617183 94122 71517 302500 616045 357074 2834 617403 3473 616455 617402 301040 309580 98755 98761 98756 94147 615181 615349 615287 617120 617237 309800 603358 618291 169189 169186 255200 614856 608022 614299 613707 613706 617333 257300 218340 613559 320370 617106 601005 618285 616457 314647 614756 616672 300422 300749 613563 616828 616816 300963 618268 614807 617507 612300 616737 617360 616781 617761 614464 614114 616579 529965 617159 602541 614961 608930 616313 616314 616321 616322 616323 605809 616324 608931 601776 300114 411493 616271 612540 616286 436271 263501 613489 614576 608779 3450 75840 610 616471 616720 617821 616351 130000 158810 254090 616276 612016 614654 615119 2754 194190 608836 370980 614643 617062 397715 615636 617915 615502 615075 219800 618142 300354 453521 616127 143880 616538 615281 601390 616459 300067 608643 300536 614507 271665 613398 457260 300958 617171 270400 617836 613839 204750 616632 245348 2394 246900 300850 352470 617384 66634 811 616346 614388 615368 615879 614219 614750 615042 615539 614653 614104 614924 617330 300960 616277 137888 616409 616393 614437 605253 610253 300148 615440 617270 616875 613684 615715 617180 75857 51188 614678 618065 616682 617425 610532 616154 614946 615546 615471 617166 615465 100800 216340 300179 34515 606612 613153 613152 255100 610883 300321 88628 616193 613454 613670 618241 136570 616981 617153 617113 612736 643 2255 615074 233910 300849 609060 608804 401866 610015 220120 615510 615351 615352 488613 616973 617173 617182 3166 252500 615501 477673 616281 93317 250220 617864 363432 616204 616139 617162 614831 617988 616198 464282 71212 231530 5 309541 300882 617268 613926 617011 615516 176270 272800 250620 616881 617537 616977 324575 263455 300986 616580 617391 261515 617248 248111 617435 617093 615330 614231 615846 617895 616489 617404 309530 616370 613204 616647 208513 610443 457193 616268 603736 616056 98768 79137 613720 614959 616728 300534 616784 616546 617822 617296 2836 614255 609460 617235 200990 605130 615637 615960 258 615191 613154 615438 617468 614462 614340 616299 264 613205 616165 2788 613177 615595 615838 459056 616680 615547 248510 617760 616734 616430 617188 618124 300260 300055 300673 305450 309520 616789 616449 613443 614399 617086 616486 212066 617228 617306 617121 616688 614741 609180 234050 256810 618184 251347 610498 617664 502423 617675 614947 310400 614702 616638 250940 616325 324604 254940 616549 79476 266 171881 276432 617393 431361 616034 616266 615419 616239 614063 617186 616116 618236 618244 618237 618239 300952 618246 618228 618229 256030 615833 617201 2751 85277 300912 613735 614753 615273 618278 527497 300967 130720 609583 613224 614325 117550 300831 617241 611091 617082 251290 534 309000 616896 617729 259720 505237 617452 610125 615009 607432 613320 606054 251280 608027 494526 616921 614111 245349 614652 912 601539 614870 614871 614859 614883 614885 614887 614876 614877 614886 614866 614867 614872 614873 614882 617370 614862 614863 615802 614207 615716 615816 261750 617146 300868 616917 618010 280633 614080 614749 618143 615398 616809 603387 613722 616763 1900 98916 213200 613402 98908 610717 251950 79096 610090 614932 614813 616364 254892 613662 94125 610131 264090 253280 614830 615249 616094 86812 613150 613156 617222 617450 617506 616355 90354 616224 603553 98763 617364 617157 157941 301835 617481 611721 616263 261640 508488 616158 617051 616420 617258 615760 617807 614222 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Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.