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 H144568648ORPHA1114623336610627
HP:0001252HP:0001252Hypotonia0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM111817366605113
HP:0001252HP:0001252Hypotonia0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM130487604773
HP:0001252HP:0001252Hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM163589607008
HP:0001252HP:0001252Hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM132890606885
HP:0001252HP:0001252Hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM130191600301
HP:0001252HP:0001252Hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1129792609575
HP:0001252HP:0001252Hypotonia0ACOX1 CL E G H512971ORPHA1517119609751
HP:0001252HP:0001252Hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM127123171650
HP:0001252HP:0001252Hypotonia0ACSL4 CL E G H218286818ORPHA12603571300157
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H582020ORPHA1392129102610
HP:0001252HP:0001252Hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1406132102630
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95137754ORPHA194177104620
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001252HP:0001252Hypotonia0ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0001252HP:0001252Hypotonia0ADCY6 CL E G H1122680ORPHA172237600294
HP:0001252HP:0001252Hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0001252HP:0001252Hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM124221869610345
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806220493ORPHA192221575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA192221575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM192221575608894
HP:0001252HP:0001252Hypotonia0AHSG CL E G H1972850ORPHA161349138680
HP:0001252HP:0001252Hypotonia0AIPL1 CL E G H2374665ORPHA1397359604392
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM14379722138250
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1597408610045
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1761877107323
HP:0001252HP:0001252Hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0001252HP:0001252Hypotonia0ALG12 CL E G H7908779324ORPHA146419358607144
HP:0001252HP:0001252Hypotonia0ALG3 CL E G H1019579321ORPHA117923056608750
HP:0001252HP:0001252Hypotonia0ALG6 CL E G H2992979320ORPHA150523157604566
HP:0001252HP:0001252Hypotonia0ALG9 CL E G H7979679328ORPHA123615672606941
HP:0001252HP:0001252Hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1787438171760
HP:0001252HP:0001252Hypotonia0AMMECR1 CL E G H994986818ORPHA1197467300195
HP:0001252HP:0001252Hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1457473238310
HP:0001252HP:0001252Hypotonia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H890585335ORPHA1218560300629
HP:0001252HP:0001252Hypotonia0APC2 CL E G H10297821ORPHA123524036612034
HP:0001252HP:0001252Hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0001252HP:0001252Hypotonia0AR CL E G H367481ORPHA1556644313700
HP:0001252HP:0001252Hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM124329216610911
HP:0001252HP:0001252Hypotonia0ARID1A CL E G H82891465ORPHA154511110603024
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H574921465ORPHA1120618040614556
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM1120618040614556
HP:0001252HP:0001252Hypotonia0ARID2 CL E G H1965281465ORPHA122718037609539
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA126425419608922
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM126425419608922
HP:0001252HP:0001252Hypotonia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1106694604695
HP:0001252HP:0001252Hypotonia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA146820730617612
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1953713607574
HP:0001252HP:0001252Hypotonia0ARVCF CL E G H421567ORPHA1541728602269
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302452ORPHA167918060300382
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM167918060300382
HP:0001252HP:0001252Hypotonia0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443314911ORPHA1319756608034
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1319756608034
HP:0001252HP:0001252Hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM150318318612990
HP:0001252HP:0001252Hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1178779608179
HP:0001252HP:0001252Hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1165794601731
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM148418481611716
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM148418481611716
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538198ORPHA11283869300011
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538565ORPHA11283869300011
HP:0001252HP:0001252Hypotonia0ATP8A2 CL E G H517611766ORPHA127113533605870
HP:0001252HP:0001252Hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546847ORPHA11544886300032
HP:0001252HP:0001252Hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0001252HP:0001252Hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679275496ORPHA136617978615291
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0001252HP:0001252Hypotonia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H268379332ORPHA1158924137060
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1158924137060
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H1128575496ORPHA1286930604327
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1286930604327
HP:0001252HP:0001252Hypotonia0B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001252HP:0001252Hypotonia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA125324123614144
HP:0001252HP:0001252Hypotonia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1196961605681
HP:0001252HP:0001252Hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1495986608348
HP:0001252HP:0001252Hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1547987248611
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM13341020603647
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673648ORPHA19481097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM19481097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0001252HP:0001252Hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM151917342300553
HP:0001252HP:0001252Hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0001252HP:0001252Hypotonia0BTD CL E G H68679241ORPHA14561122609019
HP:0001252HP:0001252Hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14561122609019
HP:0001252HP:0001252Hypotonia0CA8 CL E G H7671766ORPHA1901382114815
HP:0001252HP:0001252Hypotonia0CAMKMT CL E G H79823163693ORPHA13426276609559
HP:0001252HP:0001252Hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0001252HP:0001252Hypotonia0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA120391514601199
HP:0001252HP:0001252Hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM120391514601199
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575452318ORPHA1117629253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1117629253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1117629253612013
HP:0001252HP:0001252Hypotonia0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125228909300859
HP:0001252HP:0001252Hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0001252HP:0001252Hypotonia0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA17216892606037
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1152711411300203
HP:0001252HP:0001252Hypotonia0CDKN1C CL E G H102885173ORPHA19121786600856
HP:0001252HP:0001252Hypotonia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA141124866616690
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241220493ORPHA130526690613446
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA130526690613446
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018465ORPHA1225129021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H801842318ORPHA1225129021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1225129021610142
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681220493ORPHA137512370610523
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA137512370610523
HP:0001252HP:0001252Hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H55636138ORPHA1231820626608892
HP:0001252HP:0001252Hypotonia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0001252HP:0001252Hypotonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA111026877616174
HP:0001252HP:0001252Hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0001252HP:0001252Hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0001252HP:0001252Hypotonia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11812586603432
HP:0001252HP:0001252Hypotonia0CNTNAP1 CL E G H85062680ORPHA12678011602346
HP:0001252HP:0001252Hypotonia0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM18718025614772
HP:0001252HP:0001252Hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0001252HP:0001252Hypotonia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001252HP:0001252Hypotonia0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001252HP:0001252Hypotonia0COG7 CL E G H9194979333ORPHA129618622606978
HP:0001252HP:0001252Hypotonia0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12771899ORPHA120162197120150
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12781899ORPHA114582198120160
HP:0001252HP:0001252Hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM118202200120140
HP:0001252HP:0001252Hypotonia0COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001252HP:0001252Hypotonia0COLQ CL E G H829298915ORPHA14652226603033
HP:0001252HP:0001252Hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0001252HP:0001252Hypotonia0COMT CL E G H1312567ORPHA15862228116790
HP:0001252HP:0001252Hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11222244601683
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12932260602125
HP:0001252HP:0001252Hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355255241ORPHA12512263603646
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12512263603646
HP:0001252HP:0001252Hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0001252HP:0001252Hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0001252HP:0001252Hypotonia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1142625801614571
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1142625801614571
HP:0001252HP:0001252Hypotonia0CPS1 CL E G H1373147ORPHA111522323608307
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374156ORPHA16202328600528
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM16202328600528
HP:0001252HP:0001252Hypotonia0CPT2 CL E G H1376228308ORPHA17202330600650
HP:0001252HP:0001252Hypotonia0CRB1 CL E G H2341865ORPHA112742343604210
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0001252HP:0001252Hypotonia0CRX CL E G H140665ORPHA14422383602225
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA179326193611654
HP:0001252HP:0001252Hypotonia0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13132516604275
HP:0001252HP:0001252Hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11542606609506
HP:0001252HP:0001252Hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM18320580608713
HP:0001252HP:0001252Hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM139428358609186
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H1605899ORPHA14962666128239
HP:0001252HP:0001252Hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15822698248610
HP:0001252HP:0001252Hypotonia0DCX CL E G H16412148ORPHA13882714300121
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H10522819ORPHA145214677602635
HP:0001252HP:0001252Hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11672858601465
HP:0001252HP:0001252Hypotonia0DHCR7 CL E G H1717818ORPHA16482860602858
HP:0001252HP:0001252Hypotonia0DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0001252HP:0001252Hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0001252HP:0001252Hypotonia0DMPK CL E G H1760273ORPHA12352933605377
HP:0001252HP:0001252Hypotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H179886309ORPHA12582995191350
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12582995191350
HP:0001252HP:0001252Hypotonia0DPF2 CL E G H59771465ORPHA1739964601671
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H881379322ORPHA12033005603503
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0001252HP:0001252Hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13793012612779
HP:0001252HP:0001252Hypotonia0DUOX2 CL E G H5050695716ORPHA183213273606759
HP:0001252HP:0001252Hypotonia0DUOXA2 CL E G H40575395716ORPHA17332698612772
HP:0001252HP:0001252Hypotonia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM129742961600112
HP:0001252HP:0001252Hypotonia0ECHS1 CL E G H1892255241ORPHA13653151602292
HP:0001252HP:0001252Hypotonia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12743180131244
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H19471520ORPHA12143226300035
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12143226300035
HP:0001252HP:0001252Hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981396147ORPHA1157024650607001
HP:0001252HP:0001252Hypotonia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0001252HP:0001252Hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0001252HP:0001252Hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0001252HP:0001252Hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0001252HP:0001252Hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0001252HP:0001252Hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0001252HP:0001252Hypotonia0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17633327130160
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H85181764ORPHA114585959603722
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0001252HP:0001252Hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0001252HP:0001252Hypotonia0EPCAM CL E G H4072144ORPHA161311529185535
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1121329331615068
HP:0001252HP:0001252Hypotonia0ERCC1 CL E G H20671466ORPHA11133433126380
HP:0001252HP:0001252Hypotonia0ERCC2 CL E G H20681466ORPHA111963434126340
HP:0001252HP:0001252Hypotonia0ERCC5 CL E G H20731466ORPHA14253437133530
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H20741466ORPHA111703438609413
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0001252HP:0001252Hypotonia0ERF CL E G H20773267ORPHA11313444611888
HP:0001252HP:0001252Hypotonia0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0001252HP:0001252Hypotonia0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0001252HP:0001252Hypotonia0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0001252HP:0001252Hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM127923287608451
HP:0001252HP:0001252Hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM14163527601573
HP:0001252HP:0001252Hypotonia0FAN1 CL E G H22909144ORPHA136029170613534
HP:0001252HP:0001252Hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H22002462ORPHA159703603134797
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H2200284979ORPHA159703603134797
HP:0001252HP:0001252Hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11933606611570
HP:0001252HP:0001252Hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H22611860ORPHA17463690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226193274ORPHA17463690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226115Antisocial personality disorderORPHA17463690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM17463690134934
HP:0001252HP:0001252Hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM115943700136850
HP:0001252HP:0001252Hypotonia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM118718625614505
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147588ORPHA178717997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147899ORPHA178717997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM178717997606596
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218588ORPHA17833622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218899ORPHA17833622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17833622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0001252HP:0001252Hypotonia0FLII CL E G H2314819ORPHA11543750600362
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332908ORPHA13383775309550
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332261483ORPHA13383775309550
HP:0001252HP:0001252Hypotonia0FOXE1 CL E G H230495713ORPHA1713806602617
HP:0001252HP:0001252Hypotonia0FOXG1 CL E G H2290261144ORPHA16143811164874
HP:0001252HP:0001252Hypotonia0FOXRED1 CL E G H55572255241ORPHA125526927613622
HP:0001252HP:0001252Hypotonia0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0001252HP:0001252Hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0001252HP:0001252Hypotonia0GABRA1 CL E G H255433069ORPHA15194075137160
HP:0001252HP:0001252Hypotonia0GABRD CL E G H25631606ORPHA13974084137163
HP:0001252HP:0001252Hypotonia0GABRG2 CL E G H256633069ORPHA15284087137164
HP:0001252HP:0001252Hypotonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0001252HP:0001252Hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0001252HP:0001252Hypotonia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM13294170305371
HP:0001252HP:0001252Hypotonia0GBA CL E G H262985212ORPHA14177606463
HP:0001252HP:0001252Hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM16004180607839
HP:0001252HP:0001252Hypotonia0GCDH CL E G H263925ORPHA16004189608801
HP:0001252HP:0001252Hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM16004189608801
HP:0001252HP:0001252Hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11624208238330
HP:0001252HP:0001252Hypotonia0GDF6 CL E G H39225565ORPHA13124221601147
HP:0001252HP:0001252Hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM118164313238300
HP:0001252HP:0001252Hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11664367613109
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925588ORPHA127322932615320
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925363623ORPHA127322932615320
HP:0001252HP:0001252Hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12614416602744
HP:0001252HP:0001252Hypotonia0GORAB CL E G H923442078ORPHA119825676607983
HP:0001252HP:0001252Hypotonia0GP1BB CL E G H2812567ORPHA14494440138720
HP:0001252HP:0001252Hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM18554451300037
HP:0001252HP:0001252Hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12144452300168
HP:0001252HP:0001252Hypotonia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11634659601679
HP:0001252HP:0001252Hypotonia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12184661604318
HP:0001252HP:0001252Hypotonia0GUCY2D CL E G H300065ORPHA18384689600179
HP:0001252HP:0001252Hypotonia0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12774696611499
HP:0001252HP:0001252Hypotonia0HACD1 CL E G H92002020ORPHA11099639610467
HP:0001252HP:0001252Hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM110721033610876
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA16304801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM16304801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM16304801600890
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12634803143450
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12634803143450
HP:0001252HP:0001252Hypotonia0HBA1 CL E G H303998791ORPHA13794823141800
HP:0001252HP:0001252Hypotonia0HBA2 CL E G H304098791ORPHA13334824141850
HP:0001252HP:0001252Hypotonia0HDAC4 CL E G H97591001Branchial arch defectsORPHA142714063605314
HP:0001252HP:0001252Hypotonia0HESX1 CL E G H8820226307ORPHA1764877601802
HP:0001252HP:0001252Hypotonia0HIBCH CL E G H2627588639ORPHA11714908610690
HP:0001252HP:0001252Hypotonia0HIRA CL E G H7290567ORPHA14354916600237
HP:0001252HP:0001252Hypotonia0HLCS CL E G H314179242ORPHA17224976609018
HP:0001252HP:0001252Hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM17224976609018
HP:0001252HP:0001252Hypotonia0HNRNPU CL E G H3192238769ORPHA16925048602869
HP:0001252HP:0001252Hypotonia0HPD CL E G H32422118ORPHA11585147609695
HP:0001252HP:0001252Hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13275157308000
HP:0001252HP:0001252Hypotonia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0001252HP:0001252Hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12224800300256
HP:0001252HP:0001252Hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12075261118190
HP:0001252HP:0001252Hypotonia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA122926558610693
HP:0001252HP:0001252Hypotonia0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM11845383147650
HP:0001252HP:0001252Hypotonia0IDUA CL E G H342593473ORPHA113135391252800
HP:0001252HP:0001252Hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM189218873606951
HP:0001252HP:0001252Hypotonia0IFT140 CL E G H974265ORPHA1128429077614620
HP:0001252HP:0001252Hypotonia0IMPDH1 CL E G H361465ORPHA14276052146690
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623220493ORPHA162021474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA162021474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA162021474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM162021474613037
HP:0001252HP:0001252Hypotonia0INPP5K CL E G H51763559ORPHA115733882607875
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA12956080600829
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM12956080600829
HP:0001252HP:0001252Hypotonia0IQCB1 CL E G H965765ORPHA138728949609237
HP:0001252HP:0001252Hypotonia0IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0001252HP:0001252Hypotonia0ISPD CL E G H729920899ORPHA164737276614631
HP:0001252HP:0001252Hypotonia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM11866139605025
HP:0001252HP:0001252Hypotonia0ITGA7 CL E G H36792020ORPHA17186143600536
HP:0001252HP:0001252Hypotonia0ITGB6 CL E G H36942850ORPHA1956161147558
HP:0001252HP:0001252Hypotonia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA111346180147265
HP:0001252HP:0001252Hypotonia0IYD CL E G H38943495716ORPHA16521071612025
HP:0001252HP:0001252Hypotonia0JMJD1C CL E G H221037567ORPHA197112313604503
HP:0001252HP:0001252Hypotonia0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM172519309607704
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522648ORPHA160517582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H235223047ORPHA160517582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM160517582605880
HP:0001252HP:0001252Hypotonia0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0001252HP:0001252Hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM12166235176264
HP:0001252HP:0001252Hypotonia0KCNE5 CL E G H2363086818ORPHA12086241300328
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM14136250603305
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0001252HP:0001252Hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13356256602208
HP:0001252HP:0001252Hypotonia0KCNJ13 CL E G H376965ORPHA11936259603208
HP:0001252HP:0001252Hypotonia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM1906283605874
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785439218ORPHA116896296602235
HP:0001252HP:0001252Hypotonia0KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H74032322ORPHA167812637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM167812637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM167812637300128
HP:0001252HP:0001252Hypotonia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0001252Hypotonia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA182819960610178
HP:0001252HP:0001252Hypotonia0KIF11 CL E G H38322526ORPHA16056388148760
HP:0001252HP:0001252Hypotonia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001252HP:0001252Hypotonia0KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0001252Hypotonia0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM14116391603213
HP:0001252HP:0001252Hypotonia0KMT2A CL E G H4297319182ORPHA113177132159555
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H80852322ORPHA129397133602113
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM129397133602113
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845144ORPHA14406407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845648ORPHA14406407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38453339ORPHA14406407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0001252HP:0001252Hypotonia0L2HGDH CL E G H7994479314ORPHA117920499609584
HP:0001252HP:0001252Hypotonia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM132836482156225
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM16776487150325
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215588ORPHA16586511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16586511603590
HP:0001252HP:0001252Hypotonia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM124325726300964
HP:0001252HP:0001252Hypotonia0LCA5 CL E G H16769165ORPHA152331923611408
HP:0001252HP:0001252Hypotonia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12636556604407
HP:0001252HP:0001252Hypotonia0LGI4 CL E G H1631752680ORPHA17918712608303
HP:0001252HP:0001252Hypotonia0LHX3 CL E G H8022226307ORPHA13796595600577
HP:0001252HP:0001252Hypotonia0LHX4 CL E G H89884226307ORPHA114421734602146
HP:0001252HP:0001252Hypotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0001252HP:0001252Hypotonia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12016613601329
HP:0001252HP:0001252Hypotonia0LIPT1 CL E G H51601255241ORPHA19829569610284
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H5578879284ORPHA121623038612625
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM121623038612625
HP:0001252HP:0001252Hypotonia0LMNA CL E G H4000157973ORPHA116226636150330
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H93611458ORPHA15019479605490
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM15019479605490
HP:0001252HP:0001252Hypotonia0LRAT CL E G H922765ORPHA12126685604863
HP:0001252HP:0001252Hypotonia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM113546697603506
HP:0001252HP:0001252Hypotonia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM1115415714607544
HP:0001252HP:0001252Hypotonia0LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM1476719246530
HP:0001252HP:0001252Hypotonia0LZTR1 CL E G H8216648ORPHA124086742600574
HP:0001252HP:0001252Hypotonia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0001252HP:0001252Hypotonia0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13986840176872
HP:0001252HP:0001252Hypotonia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0001252HP:0001252Hypotonia0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM15996842601263
HP:0001252HP:0001252Hypotonia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0001252HP:0001252Hypotonia0MAP3K20 CL E G H517762020ORPHA124317797609479
HP:0001252HP:0001252Hypotonia0MBD5 CL E G H55777228402ORPHA1114920444611472
HP:0001252HP:0001252Hypotonia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM15806936609010
HP:0001252HP:0001252Hypotonia0MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA15806936609010
HP:0001252HP:0001252Hypotonia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM15326937609014
HP:0001252HP:0001252Hypotonia0MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA15326937609014
HP:0001252HP:0001252Hypotonia0MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0001252HP:0001252Hypotonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM153813356605248
HP:0001252HP:0001252Hypotonia0MED12 CL E G H9968776ORPHA1123611957300188
HP:0001252HP:0001252Hypotonia0MEF2C CL E G H4208228384ORPHA14206996600662
HP:0001252HP:0001252Hypotonia0MKS1 CL E G H54903220493ORPHA16627121609883
HP:0001252HP:0001252Hypotonia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA16627121609883
HP:0001252HP:0001252Hypotonia0MLH1 CL E G H4292144ORPHA148267127120436
HP:0001252HP:0001252Hypotonia0MLH3 CL E G H27030144ORPHA118247128604395
HP:0001252HP:0001252Hypotonia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120612744605678
HP:0001252HP:0001252Hypotonia0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM13737150606761
HP:0001252HP:0001252Hypotonia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM141818871607481
HP:0001252HP:0001252Hypotonia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM140819331607568
HP:0001252HP:0001252Hypotonia0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM143224525609831
HP:0001252HP:0001252Hypotonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM123225221611935
HP:0001252HP:0001252Hypotonia0MMUT CL E G H459479312ORPHA17717526609058
HP:0001252HP:0001252Hypotonia0MMUT CL E G H4594289916ORPHA17717526609058
HP:0001252HP:0001252Hypotonia0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM17717526609058
HP:0001252HP:0001252Hypotonia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0001252HP:0001252Hypotonia0MPDU1 CL E G H952679323ORPHA11057207604041
HP:0001252HP:0001252Hypotonia0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13267216154550
HP:0001252HP:0001252Hypotonia0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0001252HP:0001252Hypotonia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM114414508605810
HP:0001252HP:0001252Hypotonia0MSH2 CL E G H4436144ORPHA163747325609309
HP:0001252HP:0001252Hypotonia0MSH6 CL E G H2956144ORPHA177067329600678
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 H123263255241ORPHA118129666611766
HP:0001252HP:0001252Hypotonia0MTM1 CL E G H4534596Albright like syndromeORPHA17207448300415
HP:0001252HP:0001252Hypotonia0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA16687473602568
HP:0001252HP:0001252Hypotonia0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM16687473602568
HP:0001252HP:0001252Hypotonia0MTTP CL E G H454714Bilateral squintCN228276ORPHA17017467157147
HP:0001252HP:0001252Hypotonia0MVK CL E G H459829ORPHA14707530251170
HP:0001252HP:0001252Hypotonia0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14707530251170
HP:0001252HP:0001252Hypotonia0MYL2 CL E G H46332020ORPHA14457583160781
HP:0001252HP:0001252Hypotonia0MYMK CL E G H3898271358ORPHA17533778615345
HP:0001252HP:0001252Hypotonia0MYO5A CL E G H464433445ORPHA12497602160777
HP:0001252HP:0001252Hypotonia0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM12497602160777
HP:0001252HP:0001252Hypotonia0NAGA CL E G H466879279ORPHA11837631104170
HP:0001252HP:0001252Hypotonia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11837631104170
HP:0001252HP:0001252Hypotonia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM111919237605202
HP:0001252HP:0001252Hypotonia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1125015625608025
HP:0001252HP:0001252Hypotonia0NDUFA10 CL E G H4705255241ORPHA13737684603835
HP:0001252HP:0001252Hypotonia0NDUFA12 CL E G H55967255241ORPHA17123987614530
HP:0001252HP:0001252Hypotonia0NDUFA13 CL E G H51079255241ORPHA12117194609435
HP:0001252HP:0001252Hypotonia0NDUFA2 CL E G H4695255241ORPHA1767685602137
HP:0001252HP:0001252Hypotonia0NDUFA4 CL E G H4697255241ORPHA1747687603833
HP:0001252HP:0001252Hypotonia0NDUFA9 CL E G H4704255241ORPHA11797693603834
HP:0001252HP:0001252Hypotonia0NDUFAF2 CL E G H91942255241ORPHA111528086609653
HP:0001252HP:0001252Hypotonia0NDUFAF5 CL E G H79133255241ORPHA127315899612360
HP:0001252HP:0001252Hypotonia0NDUFAF6 CL E G H137682255241ORPHA119828625612392
HP:0001252HP:0001252Hypotonia0NDUFS1 CL E G H4719255241ORPHA13327707157655
HP:0001252HP:0001252Hypotonia0NDUFS2 CL E G H4720255241ORPHA11787708602985
HP:0001252HP:0001252Hypotonia0NDUFS3 CL E G H4722255241ORPHA11007710603846
HP:0001252HP:0001252Hypotonia0NDUFS4 CL E G H4724255241ORPHA11047711602694
HP:0001252HP:0001252Hypotonia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0001252HP:0001252Hypotonia0NDUFS7 CL E G H374291255241ORPHA11647714601825
HP:0001252HP:0001252Hypotonia0NDUFS8 CL E G H4728255241ORPHA1987715602141
HP:0001252HP:0001252Hypotonia0NDUFV1 CL E G H4723255241ORPHA12257716161015
HP:0001252HP:0001252Hypotonia0NDUFV2 CL E G H4729255241ORPHA11917717600532
HP:0001252HP:0001252Hypotonia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117412768606026
HP:0001252HP:0001252Hypotonia0NEU1 CL E G H4758812ORPHA11477758608272
HP:0001252HP:0001252Hypotonia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11477758608272
HP:0001252HP:0001252Hypotonia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12617788164005
HP:0001252HP:0001252Hypotonia0NKX2-1 CL E G H708095713ORPHA122711825600635
HP:0001252HP:0001252Hypotonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM122711825600635
HP:0001252HP:0001252Hypotonia0NKX2-5 CL E G H148295712ORPHA14492488600584
HP:0001252HP:0001252Hypotonia0NKX2-5 CL E G H148295713ORPHA14492488600584
HP:0001252HP:0001252Hypotonia0NMNAT1 CL E G H6480265ORPHA119717877608700
HP:0001252HP:0001252Hypotonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM116937897607623
HP:0001252HP:0001252Hypotonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM118314537601015
HP:0001252HP:0001252Hypotonia0NPHP1 CL E G H4867220497ORPHA16537905607100
HP:0001252HP:0001252Hypotonia0NRAS CL E G H4893648ORPHA12507989164790
HP:0001252HP:0001252Hypotonia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12507989164790
HP:0001252HP:0001252Hypotonia0NSD1 CL E G H64324821ORPHA1139014234606681
HP:0001252HP:0001252Hypotonia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA136312766602952
HP:0001252HP:0001252Hypotonia0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17892567300170
HP:0001252HP:0001252Hypotonia0OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11058124613022
HP:0001252HP:0001252Hypotonia0OPHN1 CL E G H4983137831ORPHA13818148300127
HP:0001252HP:0001252Hypotonia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13818148300127
HP:0001252HP:0001252Hypotonia0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM125525896610277
HP:0001252HP:0001252Hypotonia0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA11678548176790
HP:0001252HP:0001252Hypotonia0PAFAH1B1 CL E G H5048217385ORPHA14398574601545
HP:0001252HP:0001252Hypotonia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA16888620607108
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H784995712ORPHA11988622167415
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H784995713ORPHA11988622167415
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H784995720ORPHA11988622167415
HP:0001252HP:0001252Hypotonia0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11988622167415
HP:0001252HP:0001252Hypotonia0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM18288636608786
HP:0001252HP:0001252Hypotonia0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM1678646126090
HP:0001252HP:0001252Hypotonia0PCDH19 CL E G H5752633069ORPHA1112014270300460
HP:0001252HP:0001252Hypotonia0PCYT1A CL E G H513065ORPHA12988754123695
HP:0001252HP:0001252Hypotonia0PDHA1 CL E G H5160255241ORPHA16018806300502
HP:0001252HP:0001252Hypotonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16018806300502
HP:0001252HP:0001252Hypotonia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11289279605993
HP:0001252HP:0001252Hypotonia0PET100 CL E G H100131801255241ORPHA15540038614770
HP:0001252HP:0001252Hypotonia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0001252HP:0001252Hypotonia0PEX1 CL E G H5189772ORPHA112058850602136
HP:0001252HP:0001252Hypotonia0PEX1 CL E G H518944MYBPC1-related conditionORPHA112058850602136
HP:0001252HP:0001252Hypotonia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0001252HP:0001252Hypotonia0PEX10 CL E G H5192772ORPHA16548851602859
HP:0001252HP:0001252Hypotonia0PEX10 CL E G H519244MYBPC1-related conditionORPHA16548851602859
HP:0001252HP:0001252Hypotonia0PEX11B CL E G H8799772ORPHA13508853603867
HP:0001252HP:0001252Hypotonia0PEX11B CL E G H879944MYBPC1-related conditionORPHA13508853603867
HP:0001252HP:0001252Hypotonia0PEX12 CL E G H5193772ORPHA13608854601758
HP:0001252HP:0001252Hypotonia0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0001252HP:0001252Hypotonia0PEX12 CL E G H519344MYBPC1-related conditionORPHA13608854601758
HP:0001252HP:0001252Hypotonia0PEX13 CL E G H5194772ORPHA13978855601789
HP:0001252HP:0001252Hypotonia0PEX13 CL E G H519444MYBPC1-related conditionORPHA13978855601789
HP:0001252HP:0001252Hypotonia0PEX14 CL E G H5195772ORPHA13748856601791
HP:0001252HP:0001252Hypotonia0PEX14 CL E G H519544MYBPC1-related conditionORPHA13748856601791
HP:0001252HP:0001252Hypotonia0PEX16 CL E G H9409772ORPHA13468857603360
HP:0001252HP:0001252Hypotonia0PEX16 CL E G H940944MYBPC1-related conditionORPHA13468857603360
HP:0001252HP:0001252Hypotonia0PEX19 CL E G H5824772ORPHA13049713600279
HP:0001252HP:0001252Hypotonia0PEX19 CL E G H582444MYBPC1-related conditionORPHA13049713600279
HP:0001252HP:0001252Hypotonia0PEX2 CL E G H5828772ORPHA13669717170993
HP:0001252HP:0001252Hypotonia0PEX2 CL E G H582844MYBPC1-related conditionORPHA13669717170993
HP:0001252HP:0001252Hypotonia0PEX26 CL E G H55670772ORPHA143122965608666
HP:0001252HP:0001252Hypotonia0PEX26 CL E G H5567044MYBPC1-related conditionORPHA143122965608666
HP:0001252HP:0001252Hypotonia0PEX3 CL E G H8504772ORPHA12718858603164
HP:0001252HP:0001252Hypotonia0PEX3 CL E G H850444MYBPC1-related conditionORPHA12718858603164
HP:0001252HP:0001252Hypotonia0PEX5 CL E G H5830772ORPHA16899719600414
HP:0001252HP:0001252Hypotonia0PEX5 CL E G H583044MYBPC1-related conditionORPHA16899719600414
HP:0001252HP:0001252Hypotonia0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0001252HP:0001252Hypotonia0PEX6 CL E G H5190772ORPHA110858859601498
HP:0001252HP:0001252Hypotonia0PEX6 CL E G H519044MYBPC1-related conditionORPHA110858859601498
HP:0001252HP:0001252Hypotonia0PEX7 CL E G H5191773ORPHA14418860601757
HP:0001252HP:0001252Hypotonia0PHF6 CL E G H84295127ORPHA128518145300414
HP:0001252HP:0001252Hypotonia0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM128518145300414
HP:0001252HP:0001252Hypotonia0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11718931172471
HP:0001252HP:0001252Hypotonia0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA18409143603851
HP:0001252HP:0001252Hypotonia0PHYH CL E G H5264773ORPHA13038940602026
HP:0001252HP:0001252Hypotonia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA112623352607532
HP:0001252HP:0001252Hypotonia0PIEZO2 CL E G H638952461ORPHA175526270613629
HP:0001252HP:0001252Hypotonia0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM175526270613629
HP:0001252HP:0001252Hypotonia0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0001252HP:0001252Hypotonia0PIK3CA CL E G H5290144ORPHA19758975171834
HP:0001252HP:0001252Hypotonia0PIK3CA CL E G H529060040ORPHA19758975171834
HP:0001252HP:0001252Hypotonia0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM19758975171834
HP:0001252HP:0001252Hypotonia0PLA2G6 CL E G H839835069ORPHA15989039603604
HP:0001252HP:0001252Hypotonia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0001252HP:0001252Hypotonia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0001252HP:0001252Hypotonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13919086300401
HP:0001252HP:0001252Hypotonia0PLPBP CL E G H112123006ORPHA1909457604436
HP:0001252HP:0001252Hypotonia0PLXND1 CL E G H23129570ORPHA11189107604282
HP:0001252HP:0001252Hypotonia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0001252HP:0001252Hypotonia0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0001252HP:0001252Hypotonia0PMPCA CL E G H232031170ORPHA114018667613036
HP:0001252HP:0001252Hypotonia0PMS1 CL E G H5378144ORPHA1969121600258
HP:0001252HP:0001252Hypotonia0PMS2 CL E G H5395144ORPHA143469122600259
HP:0001252HP:0001252Hypotonia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM12177892164050
HP:0001252HP:0001252Hypotonia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA194316268603197
HP:0001252HP:0001252Hypotonia0POLG CL E G H5428726ORPHA119179179174763
HP:0001252HP:0001252Hypotonia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001252HP:0001252Hypotonia0POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0001252HP:0001252Hypotonia0POMGNT1 CL E G H55624899ORPHA194319139606822
HP:0001252HP:0001252Hypotonia0POMGNT2 CL E G H84892899ORPHA134625902614828
HP:0001252HP:0001252Hypotonia0POMK CL E G H84197899ORPHA124426267615247
HP:0001252HP:0001252Hypotonia0POMT1 CL E G H10585588ORPHA17379202607423
HP:0001252HP:0001252Hypotonia0POMT1 CL E G H10585899ORPHA17379202607423
HP:0001252HP:0001252Hypotonia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17379202607423
HP:0001252HP:0001252Hypotonia0POMT2 CL E G H29954588ORPHA176619743607439
HP:0001252HP:0001252Hypotonia0POMT2 CL E G H29954899ORPHA176619743607439
HP:0001252HP:0001252Hypotonia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM176619743607439
HP:0001252HP:0001252Hypotonia0POU1F1 CL E G H5449226307ORPHA1929210173110
HP:0001252HP:0001252Hypotonia0POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM1929210173110
HP:0001252HP:0001252Hypotonia0PPM1B CL E G H5495163693ORPHA1329276603770
HP:0001252HP:0001252Hypotonia0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0001252HP:0001252Hypotonia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM15169325600722
HP:0001252HP:0001252Hypotonia0PRDM16 CL E G H639761606ORPHA1108114000605557
HP:0001252HP:0001252Hypotonia0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1409352176763
HP:0001252HP:0001252Hypotonia0PREPL CL E G H9581163690ORPHA154930228609557
HP:0001252HP:0001252Hypotonia0PREPL CL E G H9581163693ORPHA154930228609557
HP:0001252HP:0001252Hypotonia0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM16399453606810
HP:0001252HP:0001252Hypotonia0PROP1 CL E G H5626226307ORPHA12239455601538
HP:0001252HP:0001252Hypotonia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13609462311850
HP:0001252HP:0001252Hypotonia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM13609462311850
HP:0001252HP:0001252Hypotonia0PRRT2 CL E G H112476306ORPHA170230500614386
HP:0001252HP:0001252Hypotonia0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0001252HP:0001252Hypotonia0PSAP CL E G H5660139406ORPHA15989498176801
HP:0001252HP:0001252Hypotonia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15989498176801
HP:0001252HP:0001252Hypotonia0PTCH1 CL E G H572777301ORPHA138489585601309
HP:0001252HP:0001252Hypotonia0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM11319587612792
HP:0001252HP:0001252Hypotonia0PTPN11 CL E G H5781648ORPHA17169644176876
HP:0001252HP:0001252Hypotonia0PTS CL E G H580513Brain malformationC0266449ORPHA12149689612719
HP:0001252HP:0001252Hypotonia0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA133715508608109
HP:0001252HP:0001252Hypotonia0PYCR1 CL E G H58312078ORPHA12089721179035
HP:0001252HP:0001252Hypotonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12599752612676
HP:0001252HP:0001252Hypotonia0RAB18 CL E G H229312510ORPHA118014244602207
HP:0001252HP:0001252Hypotonia0RAB3GAP1 CL E G H229302510ORPHA131717063602536
HP:0001252HP:0001252Hypotonia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM131717063602536
HP:0001252HP:0001252Hypotonia0RAB3GAP2 CL E G H257822510ORPHA147417168609275
HP:0001252HP:0001252Hypotonia0RAF1 CL E G H5894648ORPHA18279829164760
HP:0001252HP:0001252Hypotonia0RAI1 CL E G H10743819ORPHA111499834607642
HP:0001252HP:0001252Hypotonia0RAI1 CL E G H107431713ORPHA111499834607642
HP:0001252HP:0001252Hypotonia0RAP1A CL E G H59062322ORPHA1389855179520
HP:0001252HP:0001252Hypotonia0RAP1B CL E G H59082322ORPHA1309857179530
HP:0001252HP:0001252Hypotonia0RASA2 CL E G H5922648ORPHA13719872601589
HP:0001252HP:0001252Hypotonia0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA124879884614041
HP:0001252HP:0001252Hypotonia0RD3 CL E G H34303565ORPHA122419689180040
HP:0001252HP:0001252Hypotonia0RDH12 CL E G H14522665ORPHA138219977608830
HP:0001252HP:0001252Hypotonia0RERE CL E G H4731606ORPHA13439965605226
HP:0001252HP:0001252Hypotonia0RET CL E G H597999803Haddad syndromeC1859587ORPHA126929967164761
HP:0001252HP:0001252Hypotonia0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM126929967164761
HP:0001252HP:0001252Hypotonia0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0001252HP:0001252Hypotonia0REV3L CL E G H5980570ORPHA11339968602776
HP:0001252HP:0001252Hypotonia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11809970600404
HP:0001252HP:0001252Hypotonia0RFT1 CL E G H91869244310ORPHA139930220611908
HP:0001252HP:0001252Hypotonia0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM130118750610222
HP:0001252HP:0001252Hypotonia0RIT1 CL E G H6016648ORPHA121010023609591
HP:0001252HP:0001252Hypotonia0RMRP CL E G H6023175ORPHA162510031157660
HP:0001252HP:0001252Hypotonia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA121121698609948
HP:0001252HP:0001252Hypotonia0RPE65 CL E G H612165ORPHA165810294180069
HP:0001252HP:0001252Hypotonia0RPGRIP1 CL E G H5709665ORPHA178613436605446
HP:0001252HP:0001252Hypotonia0RPGRIP1L CL E G H23322220497ORPHA1113529168610937
HP:0001252HP:0001252Hypotonia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1113529168610937
HP:0001252HP:0001252Hypotonia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1113529168610937
HP:0001252HP:0001252Hypotonia0RPL10 CL E G H6134435938ORPHA126510298312173
HP:0001252HP:0001252Hypotonia0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM142610432300075
HP:0001252HP:0001252Hypotonia0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA142610432300075
HP:0001252HP:0001252Hypotonia0RRAS CL E G H6237648ORPHA121310447165090
HP:0001252HP:0001252Hypotonia0RREB1 CL E G H6239567ORPHA117510449602209
HP:0001252HP:0001252Hypotonia0RRM2B CL E G H50484480ORPHA129317296604712
HP:0001252HP:0001252Hypotonia0RXYLT1 CL E G H10329899ORPHA121313530605862
HP:0001252HP:0001252Hypotonia0RYR1 CL E G H6261597ORPHA1506210483180901
HP:0001252HP:0001252Hypotonia0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0001252HP:0001252Hypotonia0SATB2 CL E G H23314251019ORPHA156621637608148
HP:0001252HP:0001252Hypotonia0SC5D CL E G H630946059ORPHA122010547602286
HP:0001252HP:0001252Hypotonia0SCN1A CL E G H632333069ORPHA1346410585182389
HP:0001252HP:0001252Hypotonia0SCN1B CL E G H632433069ORPHA144410586600235
HP:0001252HP:0001252Hypotonia0SCN2A CL E G H6326306ORPHA1191410588182390
HP:0001252HP:0001252Hypotonia0SCN2A CL E G H632633069ORPHA1191410588182390
HP:0001252HP:0001252Hypotonia0SCN8A CL E G H6334306ORPHA1149410596600702
HP:0001252HP:0001252Hypotonia0SCN9A CL E G H633533069ORPHA1190710597603415
HP:0001252HP:0001252Hypotonia0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1190710597603415
HP:0001252HP:0001252Hypotonia0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0001252HP:0001252Hypotonia0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM151410604604272
HP:0001252HP:0001252Hypotonia0SDHA CL E G H6389255241ORPHA1218610680600857
HP:0001252HP:0001252Hypotonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1218610680600857
HP:0001252HP:0001252Hypotonia0SEC24C CL E G H9632567ORPHA12510705607185
HP:0001252HP:0001252Hypotonia0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA128610706607186
HP:0001252HP:0001252Hypotonia0SELENON CL E G H571902020ORPHA153715999606210
HP:0001252HP:0001252Hypotonia0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0001252HP:0001252Hypotonia0SEMA3E CL E G H9723138ORPHA145110727608166
HP:0001252HP:0001252Hypotonia0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA117410736609297
HP:0001252HP:0001252Hypotonia0SETD2 CL E G H29072821ORPHA183018420612778
HP:0001252HP:0001252Hypotonia0SIK1 CL E G H1500941935ORPHA177911142605705
HP:0001252HP:0001252Hypotonia0SIL1 CL E G H64374559ORPHA122924624608005
HP:0001252HP:0001252Hypotonia0SIM1 CL E G H6492171829ORPHA116610882603128
HP:0001252HP:0001252Hypotonia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM121819353607776
HP:0001252HP:0001252Hypotonia0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM113610889603714
HP:0001252HP:0001252Hypotonia0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM17810892606326
HP:0001252HP:0001252Hypotonia0SKI CL E G H64971606ORPHA191010896164780
HP:0001252HP:0001252Hypotonia0SKI CL E G H64972462ORPHA191010896164780
HP:0001252HP:0001252Hypotonia0SLC13A5 CL E G H2841113006ORPHA156823089608305
HP:0001252HP:0001252Hypotonia0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM141110933604322
HP:0001252HP:0001252Hypotonia0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM141110933604322
HP:0001252HP:0001252Hypotonia0SLC19A3 CL E G H80704255241ORPHA148216266606152
HP:0001252HP:0001252Hypotonia0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM187410969603377
HP:0001252HP:0001252Hypotonia0SLC25A19 CL E G H6038699742ORPHA113614409606521
HP:0001252HP:0001252Hypotonia0SLC25A22 CL E G H797511935ORPHA147819954609302
HP:0001252HP:0001252Hypotonia0SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0001252HP:0001252Hypotonia0SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM111410989600370
HP:0001252HP:0001252Hypotonia0SLC26A2 CL E G H1836628ORPHA154910994606718
HP:0001252HP:0001252Hypotonia0SLC26A4 CL E G H517295713ORPHA110668818605646
HP:0001252HP:0001252Hypotonia0SLC26A4 CL E G H517295720ORPHA110668818605646
HP:0001252HP:0001252Hypotonia0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM138920305609826
HP:0001252HP:0001252Hypotonia0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM125020197605881
HP:0001252HP:0001252Hypotonia0SLC3A1 CL E G H6519163690ORPHA133511025104614
HP:0001252HP:0001252Hypotonia0SLC3A1 CL E G H6519163693ORPHA133511025104614
HP:0001252HP:0001252Hypotonia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM126530521611672
HP:0001252HP:0001252Hypotonia0SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0001252HP:0001252Hypotonia0SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0001252HP:0001252Hypotonia0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0001252HP:0001252Hypotonia0SLC5A5 CL E G H652895716ORPHA115011040601843
HP:0001252HP:0001252Hypotonia0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA137127960608893
HP:0001252HP:0001252Hypotonia0SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0001252HP:0001252Hypotonia0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0001252HP:0001252Hypotonia0SMARCA4 CL E G H65971465ORPHA1436711100603254
HP:0001252HP:0001252Hypotonia0SMARCB1 CL E G H65981465ORPHA190111103601607
HP:0001252HP:0001252Hypotonia0SMARCE1 CL E G H66051465ORPHA166011109603111
HP:0001252HP:0001252Hypotonia0SMC1A CL E G H8243319182ORPHA179811111300040
HP:0001252HP:0001252Hypotonia0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0001252HP:0001252Hypotonia0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM126411123300105
HP:0001252HP:0001252Hypotonia0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM159911133604202
HP:0001252HP:0001252Hypotonia0SOS1 CL E G H6654648ORPHA1122411187182530
HP:0001252HP:0001252Hypotonia0SOS2 CL E G H6655648ORPHA191611188601247
HP:0001252HP:0001252Hypotonia0SOX10 CL E G H6663163746ORPHA130211190602229
HP:0001252HP:0001252Hypotonia0SOX11 CL E G H66641465ORPHA113011191600898
HP:0001252HP:0001252Hypotonia0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM117411195184429
HP:0001252HP:0001252Hypotonia0SOX5 CL E G H6660313892ORPHA120511201604975
HP:0001252HP:0001252Hypotonia0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM128011204608160
HP:0001252HP:0001252Hypotonia0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM110611219182120
HP:0001252HP:0001252Hypotonia0SPATA7 CL E G H5581265ORPHA133220423609868
HP:0001252HP:0001252Hypotonia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM123029022614140
HP:0001252HP:0001252Hypotonia0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM130910872604402
HP:0001252HP:0001252Hypotonia0STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM152211386605921
HP:0001252HP:0001252Hypotonia0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM126230650610745
HP:0001252HP:0001252Hypotonia0STXBP1 CL E G H681233069ORPHA187111444602926
HP:0001252HP:0001252Hypotonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0001252HP:0001252Hypotonia0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM121911449611224
HP:0001252HP:0001252Hypotonia0SURF1 CL E G H6834255241ORPHA135511474185620
HP:0001252HP:0001252Hypotonia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM135511474185620
HP:0001252HP:0001252Hypotonia0TACO1 CL E G H51204255241ORPHA18324316612958
HP:0001252HP:0001252Hypotonia0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0001252HP:0001252Hypotonia0TBC1D20 CL E G H1286372510ORPHA115416133611663
HP:0001252HP:0001252Hypotonia0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM179529203613577
HP:0001252HP:0001252Hypotonia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116611586605842
HP:0001252HP:0001252Hypotonia0TBX1 CL E G H6899567ORPHA197211592602054
HP:0001252HP:0001252Hypotonia0TBX1 CL E G H68991727ORPHA197211592602054
HP:0001252HP:0001252Hypotonia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA191311634602272
HP:0001252HP:0001252Hypotonia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM191311634602272
HP:0001252HP:0001252Hypotonia0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA129826113609863
HP:0001252HP:0001252Hypotonia0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA145325774613846
HP:0001252HP:0001252Hypotonia0TG CL E G H703895716ORPHA154611764188450
HP:0001252HP:0001252Hypotonia0TGFBR2 CL E G H7048144ORPHA184211773190182
HP:0001252HP:0001252Hypotonia0THRA CL E G H706797927ORPHA15011796190120
HP:0001252HP:0001252Hypotonia0THRB CL E G H706897927ORPHA132711799190160
HP:0001252HP:0001252Hypotonia0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0001252HP:0001252Hypotonia0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM16518188614123
HP:0001252HP:0001252Hypotonia0TMEM138 CL E G H515242318ORPHA113226944614459
HP:0001252HP:0001252Hypotonia0TMEM216 CL E G H512592318ORPHA119525018613277
HP:0001252HP:0001252Hypotonia0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM119525018613277
HP:0001252HP:0001252Hypotonia0TMEM231 CL E G H795832318ORPHA134137234614949
HP:0001252HP:0001252Hypotonia0TMEM237 CL E G H650622318ORPHA139014432614423
HP:0001252HP:0001252Hypotonia0TMEM237 CL E G H65062220497ORPHA139014432614423
HP:0001252HP:0001252Hypotonia0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA139014432614423
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA167428396609884
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM167428396609884
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA167428396609884
HP:0001252HP:0001252Hypotonia0TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM167428396609884
HP:0001252HP:0001252Hypotonia0TMEM70 CL E G H549681194ORPHA125226050612418
HP:0001252HP:0001252Hypotonia0TNXB CL E G H7148230839ORPHA1168811976600985
HP:0001252HP:0001252Hypotonia0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11723098605204
HP:0001252HP:0001252Hypotonia0TPI1 CL E G H7167868ORPHA114412009190450
HP:0001252HP:0001252Hypotonia0TPM2 CL E G H71692020ORPHA128012011190990
HP:0001252HP:0001252Hypotonia0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM128012011