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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Muscular hypotonia (HP:0001252)help
Term ID: 1252
Name: Muscular hypotonia
Synonym: Low or weak muscle tone; Muscle hypotonia
Definition: Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
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: 
..expandCentral hypotonia (HP:0011398) help
..expandHypertonia (HP:0001276) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001252HP:0001252Muscular hypotonia0A2ML1 CL E G H144568648ORPHA12131023336610627
HP:0001252HP:0001252Muscular hypotonia0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1144817366605113
HP:0001252HP:0001252Muscular hypotonia0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM12616787604773
HP:0001252HP:0001252Muscular hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117130889607008
HP:0001252HP:0001252Muscular hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM18516290606885
HP:0001252HP:0001252Muscular hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11517291600301
HP:0001252HP:0001252Muscular hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128347392609575
HP:0001252HP:0001252Muscular hypotonia0ACOX1 CL E G H512971ORPHA126152119609751
HP:0001252HP:0001252Muscular hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM1317123171650
HP:0001252HP:0001252Muscular hypotonia0ACSL4 CL E G H218286818ORPHA171843571300157
HP:0001252HP:0001252Muscular hypotonia0ACTA1 CL E G H582020ORPHA1217198129102610
HP:0001252HP:0001252Muscular hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165174132102630
HP:0001252HP:0001252Muscular hypotonia0ACY1 CL E G H95137754ORPHA11530177104620
HP:0001252HP:0001252Muscular hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11530177104620
HP:0001252HP:0001252Muscular hypotonia0ADAMTS2 CL E G H95091901ORPHA112397218604539
HP:0001252HP:0001252Muscular hypotonia0ADCY6 CL E G H1122680ORPHA1414237600294
HP:0001252HP:0001252Muscular hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138183318613228
HP:0001252HP:0001252Muscular hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12714521869610345
HP:0001252HP:0001252Muscular hypotonia0AHI1 CL E G H54806220493ORPHA19627221575608894
HP:0001252HP:0001252Muscular hypotonia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19627221575608894
HP:0001252HP:0001252Muscular hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19627221575608894
HP:0001252HP:0001252Muscular hypotonia0AHSG CL E G H1972850ORPHA1643349138680
HP:0001252HP:0001252Muscular hypotonia0AIPL1 CL E G H2374665ORPHA179148359604392
HP:0001252HP:0001252Muscular hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1331929722138250
HP:0001252HP:0001252Muscular hypotonia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA175208408610045
HP:0001252HP:0001252Muscular hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175208408610045
HP:0001252HP:0001252Muscular hypotonia0ALDH7A1 CL E G H5013006ORPHA1129375877107323
HP:0001252HP:0001252Muscular hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1129375877107323
HP:0001252HP:0001252Muscular hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14413418294605907
HP:0001252HP:0001252Muscular hypotonia0ALG12 CL E G H7908779324ORPHA11618519358607144
HP:0001252HP:0001252Muscular hypotonia0ALG3 CL E G H1019579321ORPHA1199323056608750
HP:0001252HP:0001252Muscular hypotonia0ALG6 CL E G H2992979320ORPHA12614423157604566
HP:0001252HP:0001252Muscular hypotonia0ALG9 CL E G H7979679328ORPHA1412315672606941
HP:0001252HP:0001252Muscular hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295233438171760
HP:0001252HP:0001252Muscular hypotonia0AMMECR1 CL E G H994986818ORPHA15166467300195
HP:0001252HP:0001252Muscular hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196135473238310
HP:0001252HP:0001252Muscular hypotonia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA1487621732608041
HP:0001252HP:0001252Muscular hypotonia0AP1S2 CL E G H890585335ORPHA114191560300629
HP:0001252HP:0001252Muscular hypotonia0APC2 CL E G H10297821ORPHA134724036612034
HP:0001252HP:0001252Muscular hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18220492616003
HP:0001252HP:0001252Muscular hypotonia0AR CL E G H367481ORPHA1627359644313700
HP:0001252HP:0001252Muscular hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1717029216610911
HP:0001252HP:0001252Muscular hypotonia0ARID1A CL E G H82891465ORPHA13613011110603024
HP:0001252HP:0001252Muscular hypotonia0ARID1B CL E G H574921465ORPHA118847118040614556
HP:0001252HP:0001252Muscular hypotonia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118847118040614556
HP:0001252HP:0001252Muscular hypotonia0ARID2 CL E G H1965281465ORPHA1115618037609539
HP:0001252HP:0001252Muscular hypotonia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11010525419608922
HP:0001252HP:0001252Muscular hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11010525419608922
HP:0001252HP:0001252Muscular hypotonia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1322694604695
HP:0001252HP:0001252Muscular hypotonia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA1113520730617612
HP:0001252HP:0001252Muscular hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254412713607574
HP:0001252HP:0001252Muscular hypotonia0ARVCF CL E G H421567ORPHA12339728602269
HP:0001252HP:0001252Muscular hypotonia0ARX CL E G H170302452ORPHA19838818060300382
HP:0001252HP:0001252Muscular hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19838818060300382
HP:0001252HP:0001252Muscular hypotonia0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA1629738100790
HP:0001252HP:0001252Muscular hypotonia0ASPA CL E G H443314911ORPHA1102133756608034
HP:0001252HP:0001252Muscular hypotonia0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1102133756608034
HP:0001252HP:0001252Muscular hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119418318612990
HP:0001252HP:0001252Muscular hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1395779608179
HP:0001252HP:0001252Muscular hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1830794601731
HP:0001252HP:0001252Muscular hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15622618481611716
HP:0001252HP:0001252Muscular hypotonia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15622618481611716
HP:0001252HP:0001252Muscular hypotonia0ATP7A CL E G H538565ORPHA1357492869300011
HP:0001252HP:0001252Muscular hypotonia0ATP7A CL E G H538198ORPHA1357492869300011
HP:0001252HP:0001252Muscular hypotonia0ATP8A2 CL E G H517611766ORPHA1116713533605870
HP:0001252HP:0001252Muscular hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1216118802608918
HP:0001252HP:0001252Muscular hypotonia0ATRX CL E G H546847ORPHA1170485886300032
HP:0001252HP:0001252Muscular hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176310548601556
HP:0001252HP:0001252Muscular hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1443910555601517
HP:0001252HP:0001252Muscular hypotonia0B3GALNT2 CL E G H148789899ORPHA11615728596610194
HP:0001252HP:0001252Muscular hypotonia0B3GALNT2 CL E G H148789588ORPHA11615728596610194
HP:0001252HP:0001252Muscular hypotonia0B3GALT6 CL E G H12679275496ORPHA14019717978615291
HP:0001252HP:0001252Muscular hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14019717978615291
HP:0001252HP:0001252Muscular hypotonia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11325923606374
HP:0001252HP:0001252Muscular hypotonia0B4GALT1 CL E G H268379332ORPHA12157924137060
HP:0001252HP:0001252Muscular hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM12157924137060
HP:0001252HP:0001252Muscular hypotonia0B4GALT7 CL E G H1128575496ORPHA19117930604327
HP:0001252HP:0001252Muscular hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19117930604327
HP:0001252HP:0001252Muscular hypotonia0B4GAT1 CL E G H11041899ORPHA176415685605517
HP:0001252HP:0001252Muscular hypotonia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11014224123614144
HP:0001252HP:0001252Muscular hypotonia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15147961605681
HP:0001252HP:0001252Muscular hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101182986608348
HP:0001252HP:0001252Muscular hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115240987248611
HP:0001252HP:0001252Muscular hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371401020603647
HP:0001252HP:0001252Muscular hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371401020603647
HP:0001252HP:0001252Muscular hypotonia0BRAF CL E G H673648ORPHA1684091097164757
HP:0001252HP:0001252Muscular hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684091097164757
HP:0001252HP:0001252Muscular hypotonia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684091097164757
HP:0001252HP:0001252Muscular hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11826817342300553
HP:0001252HP:0001252Muscular hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM1248116512606412
HP:0001252HP:0001252Muscular hypotonia0BTD CL E G H68679241ORPHA12483341122609019
HP:0001252HP:0001252Muscular hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483341122609019
HP:0001252HP:0001252Muscular hypotonia0CA8 CL E G H7671766ORPHA14361382114815
HP:0001252HP:0001252Muscular hypotonia0CAMKMT CL E G H79823163693ORPHA12826276609559
HP:0001252HP:0001252Muscular hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12811619721613165
HP:0001252HP:0001252Muscular hypotonia0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14106351514601199
HP:0001252HP:0001252Muscular hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14106351514601199
HP:0001252HP:0001252Muscular hypotonia0CC2D2A CL E G H575452318ORPHA19645129253612013
HP:0001252HP:0001252Muscular hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19645129253612013
HP:0001252HP:0001252Muscular hypotonia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19645129253612013
HP:0001252HP:0001252Muscular hypotonia0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1719128909300859
HP:0001252HP:0001252Muscular hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM139816892606037
HP:0001252HP:0001252Muscular hypotonia0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA139816892606037
HP:0001252HP:0001252Muscular hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM138885811411300203
HP:0001252HP:0001252Muscular hypotonia0CDKN1C CL E G H102885173ORPHA1813181786600856
HP:0001252HP:0001252Muscular hypotonia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1711324866616690
HP:0001252HP:0001252Muscular hypotonia0CEP120 CL E G H153241220493ORPHA196226690613446
HP:0001252HP:0001252Muscular hypotonia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA196226690613446
HP:0001252HP:0001252Muscular hypotonia0CEP290 CL E G H8018465ORPHA131054329021610142
HP:0001252HP:0001252Muscular hypotonia0CEP290 CL E G H801842318ORPHA131054329021610142
HP:0001252HP:0001252Muscular hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM131054329021610142
HP:0001252HP:0001252Muscular hypotonia0CEP41 CL E G H95681220493ORPHA11113212370610523
HP:0001252HP:0001252Muscular hypotonia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11113212370610523
HP:0001252HP:0001252Muscular hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM19761875601443
HP:0001252HP:0001252Muscular hypotonia0CHD7 CL E G H55636138ORPHA188490520626608892
HP:0001252HP:0001252Muscular hypotonia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1391911971603799
HP:0001252HP:0001252Muscular hypotonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA172226877616174
HP:0001252HP:0001252Muscular hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM16842026602024
HP:0001252HP:0001252Muscular hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521252027602023
HP:0001252HP:0001252Muscular hypotonia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111532586603432
HP:0001252HP:0001252Muscular hypotonia0CNTNAP1 CL E G H85062680ORPHA121278011602346
HP:0001252HP:0001252Muscular hypotonia0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM135318025614772
HP:0001252HP:0001252Muscular hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171425716615623
HP:0001252HP:0001252Muscular hypotonia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM13836545606973
HP:0001252HP:0001252Muscular hypotonia0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM11313114857606821
HP:0001252HP:0001252Muscular hypotonia0COG7 CL E G H9194979333ORPHA1512218622606978
HP:0001252HP:0001252Muscular hypotonia0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM178518623606979
HP:0001252HP:0001252Muscular hypotonia0COL1A1 CL E G H12771899ORPHA19678262197120150
HP:0001252HP:0001252Muscular hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM19678262197120150
HP:0001252HP:0001252Muscular hypotonia0COL1A2 CL E G H12781899ORPHA15235542198120160
HP:0001252HP:0001252Muscular hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15705512200120140
HP:0001252HP:0001252Muscular hypotonia0COL4A1 CL E G H1282899ORPHA11143612202120130
HP:0001252HP:0001252Muscular hypotonia0COLQ CL E G H829298915ORPHA1701952226603033
HP:0001252HP:0001252Muscular hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1701952226603033
HP:0001252HP:0001252Muscular hypotonia0COMT CL E G H1312567ORPHA1153502228116790
HP:0001252HP:0001252Muscular hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15362244601683
HP:0001252HP:0001252Muscular hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1131752260602125
HP:0001252HP:0001252Muscular hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1131752260602125
HP:0001252HP:0001252Muscular hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001252HP:0001252Muscular hypotonia0COX15 CL E G H1355255241ORPHA151362263603646
HP:0001252HP:0001252Muscular hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151362263603646
HP:0001252HP:0001252Muscular hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1111926970614698
HP:0001252HP:0001252Muscular hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13292280124089
HP:0001252HP:0001252Muscular hypotonia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11102294123870
HP:0001252HP:0001252Muscular hypotonia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111843525801614571
HP:0001252HP:0001252Muscular hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111843525801614571
HP:0001252HP:0001252Muscular hypotonia0CPS1 CL E G H1373147ORPHA12763002323608307
HP:0001252HP:0001252Muscular hypotonia0CPT1A CL E G H1374156ORPHA1531702328600528
HP:0001252HP:0001252Muscular hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1531702328600528
HP:0001252HP:0001252Muscular hypotonia0CPT2 CL E G H1376228308ORPHA11132502330600650
HP:0001252HP:0001252Muscular hypotonia0CRB1 CL E G H2341865ORPHA13472272343604210
HP:0001252HP:0001252Muscular hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13645152348600140
HP:0001252HP:0001252Muscular hypotonia0CRX CL E G H140665ORPHA11071912383602225
HP:0001252HP:0001252Muscular hypotonia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12714626193611654
HP:0001252HP:0001252Muscular hypotonia0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371302516604275
HP:0001252HP:0001252Muscular hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182522606609506
HP:0001252HP:0001252Muscular hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM162420580608713
HP:0001252HP:0001252Muscular hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13321228358609186
HP:0001252HP:0001252Muscular hypotonia0DAG1 CL E G H1605899ORPHA1112342666128239
HP:0001252HP:0001252Muscular hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1782182698248610
HP:0001252HP:0001252Muscular hypotonia0DCX CL E G H16412148ORPHA11423142714300121
HP:0001252HP:0001252Muscular hypotonia0DEAF1 CL E G H10522819ORPHA1178514677602635
HP:0001252HP:0001252Muscular hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641112858601465
HP:0001252HP:0001252Muscular hypotonia0DHCR7 CL E G H1717818ORPHA12182922860602858
HP:0001252HP:0001252Muscular hypotonia0DIS3L2 CL E G H1295632849ORPHA11454428648614184
HP:0001252HP:0001252Muscular hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM1397027642928300377
HP:0001252HP:0001252Muscular hypotonia0DMPK CL E G H1760273ORPHA181792933605377
HP:0001252HP:0001252Muscular hypotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM181792933605377
HP:0001252HP:0001252Muscular hypotonia0DPAGT1 CL E G H179886309ORPHA1421072995191350
HP:0001252HP:0001252Muscular hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421072995191350
HP:0001252HP:0001252Muscular hypotonia0DPF2 CL E G H59771465ORPHA19139964601671
HP:0001252HP:0001252Muscular hypotonia0DPM1 CL E G H881379322ORPHA19863005603503
HP:0001252HP:0001252Muscular hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM19863005603503
HP:0001252HP:0001252Muscular hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242353012612779
HP:0001252HP:0001252Muscular hypotonia0DUOX2 CL E G H5050695716ORPHA118516313273606759
HP:0001252HP:0001252Muscular hypotonia0DUOXA2 CL E G H40575395716ORPHA1183532698612772
HP:0001252HP:0001252Muscular hypotonia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM17710022961600112
HP:0001252HP:0001252Muscular hypotonia0ECHS1 CL E G H1892255241ORPHA1331573151602292
HP:0001252HP:0001252Muscular hypotonia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701403180131244
HP:0001252HP:0001252Muscular hypotonia0EFNB1 CL E G H19471520ORPHA11181633226300035
HP:0001252HP:0001252Muscular hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181633226300035
HP:0001252HP:0001252Muscular hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241313239129010
HP:0001252HP:0001252Muscular hypotonia0EHMT1 CL E G H7981396147ORPHA19452724650607001
HP:0001252HP:0001252Muscular hypotonia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA181863255604032
HP:0001252HP:0001252Muscular hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM19673257606686
HP:0001252HP:0001252Muscular hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM129543258606454
HP:0001252HP:0001252Muscular hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM122493259606273
HP:0001252HP:0001252Muscular hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM133563260606687
HP:0001252HP:0001252Muscular hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM1101933261603945
HP:0001252HP:0001252Muscular hypotonia0EIF2S3 CL E G H196885282ORPHA151653267300161
HP:0001252HP:0001252Muscular hypotonia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11274323327130160
HP:0001252HP:0001252Muscular hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11274323327130160
HP:0001252HP:0001252Muscular hypotonia0ELP1 CL E G H85181764ORPHA164275959603722
HP:0001252HP:0001252Muscular hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM164275959603722
HP:0001252HP:0001252Muscular hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073503373602700
HP:0001252HP:0001252Muscular hypotonia0EPCAM CL E G H4072144ORPHA18125311529185535
HP:0001252HP:0001252Muscular hypotonia0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16827329331615068
HP:0001252HP:0001252Muscular hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16827329331615068
HP:0001252HP:0001252Muscular hypotonia0ERCC1 CL E G H20671466ORPHA18383433126380
HP:0001252HP:0001252Muscular hypotonia0ERCC2 CL E G H20681466ORPHA11081383434126340
HP:0001252HP:0001252Muscular hypotonia0ERCC5 CL E G H20731466ORPHA1591923437133530
HP:0001252HP:0001252Muscular hypotonia0ERCC6 CL E G H20741466ORPHA11403483438609413
HP:0001252HP:0001252Muscular hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11403483438609413
HP:0001252HP:0001252Muscular hypotonia0ERF CL E G H20773267ORPHA119413444611888
HP:0001252HP:0001252Muscular hypotonia0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM130913481608053
HP:0001252HP:0001252Muscular hypotonia0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM115823482130410
HP:0001252HP:0001252Muscular hypotonia0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11911723483231675
HP:0001252HP:0001252Muscular hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM1379723287608451
HP:0001252HP:0001252Muscular hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1421853527601573
HP:0001252HP:0001252Muscular hypotonia0FAN1 CL E G H22909144ORPHA12121029170613534
HP:0001252HP:0001252Muscular hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1315929160612322
HP:0001252HP:0001252Muscular hypotonia0FBN1 CL E G H22002462ORPHA1272131543603134797
HP:0001252HP:0001252Muscular hypotonia0FBN1 CL E G H2200284979ORPHA1272131543603134797
HP:0001252HP:0001252Muscular hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481183606611570
HP:0001252HP:0001252Muscular hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0001252HP:0001252Muscular hypotonia0FGFR3 CL E G H226193274ORPHA1773443690134934
HP:0001252HP:0001252Muscular hypotonia0FGFR3 CL E G H22611860ORPHA1773443690134934
HP:0001252HP:0001252Muscular hypotonia0FGFR3 CL E G H226115Antisocial personality disorderORPHA1773443690134934
HP:0001252HP:0001252Muscular hypotonia0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM1773443690134934
HP:0001252HP:0001252Muscular hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12166353700136850
HP:0001252HP:0001252Muscular hypotonia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM166118625614505
HP:0001252HP:0001252Muscular hypotonia0FKRP CL E G H79147588ORPHA114131417997606596
HP:0001252HP:0001252Muscular hypotonia0FKRP CL E G H79147899ORPHA114131417997606596
HP:0001252HP:0001252Muscular hypotonia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114131417997606596
HP:0001252HP:0001252Muscular hypotonia0FKTN CL E G H2218588ORPHA1593593622607440
HP:0001252HP:0001252Muscular hypotonia0FKTN CL E G H2218899ORPHA1593593622607440
HP:0001252HP:0001252Muscular hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1593593622607440
HP:0001252HP:0001252Muscular hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1593593622607440
HP:0001252HP:0001252Muscular hypotonia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593593622607440
HP:0001252HP:0001252Muscular hypotonia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA1593593622607440
HP:0001252HP:0001252Muscular hypotonia0FLII CL E G H2314819ORPHA121153750600362
HP:0001252HP:0001252Muscular hypotonia0FMR1 CL E G H2332261483ORPHA1812293775309550
HP:0001252HP:0001252Muscular hypotonia0FMR1 CL E G H2332908ORPHA1812293775309550
HP:0001252HP:0001252Muscular hypotonia0FOXE1 CL E G H230495713ORPHA131423806602617
HP:0001252HP:0001252Muscular hypotonia0FOXG1 CL E G H2290261144ORPHA11692843811164874
HP:0001252HP:0001252Muscular hypotonia0FOXRED1 CL E G H55572255241ORPHA1814826927613622
HP:0001252HP:0001252Muscular hypotonia0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA134704006612280
HP:0001252HP:0001252Muscular hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM15828924065606800
HP:0001252HP:0001252Muscular hypotonia0GABRA1 CL E G H255433069ORPHA1482294075137160
HP:0001252HP:0001252Muscular hypotonia0GABRD CL E G H25631606ORPHA171964084137163
HP:0001252HP:0001252Muscular hypotonia0GABRG2 CL E G H256633069ORPHA1472414087137164
HP:0001252HP:0001252Muscular hypotonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12513444115606890
HP:0001252HP:0001252Muscular hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM127784116606953
HP:0001252HP:0001252Muscular hypotonia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1151984170305371
HP:0001252HP:0001252Muscular hypotonia0GBA CL E G H262985212ORPHA14941594177606463
HP:0001252HP:0001252Muscular hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1741484180607839
HP:0001252HP:0001252Muscular hypotonia0GCDH CL E G H263925ORPHA12442484189608801
HP:0001252HP:0001252Muscular hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12442484189608801
HP:0001252HP:0001252Muscular hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM12754208238330
HP:0001252HP:0001252Muscular hypotonia0GDF6 CL E G H39225565ORPHA121964221601147
HP:0001252HP:0001252Muscular hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM14265634313238300
HP:0001252HP:0001252Muscular hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM112874367613109
HP:0001252HP:0001252Muscular hypotonia0GMPPB CL E G H29925588ORPHA14910522932615320
HP:0001252HP:0001252Muscular hypotonia0GMPPB CL E G H29925363623ORPHA14910522932615320
HP:0001252HP:0001252Muscular hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161144416602744
HP:0001252HP:0001252Muscular hypotonia0GORAB CL E G H923442078ORPHA1168225676607983
HP:0001252HP:0001252Muscular hypotonia0GP1BB CL E G H2812567ORPHA1533454440138720
HP:0001252HP:0001252Muscular hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1983824451300037
HP:0001252HP:0001252Muscular hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151824452300168
HP:0001252HP:0001252Muscular hypotonia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111524659601679
HP:0001252HP:0001252Muscular hypotonia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA161544661604318
HP:0001252HP:0001252Muscular hypotonia0GUCY2D CL E G H300065ORPHA12431904689600179
HP:0001252HP:0001252Muscular hypotonia0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA166994696611499
HP:0001252HP:0001252Muscular hypotonia0HACD1 CL E G H92002020ORPHA11209639610467
HP:0001252HP:0001252Muscular hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM1133621033610876
HP:0001252HP:0001252Muscular hypotonia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA1712174801600890
HP:0001252HP:0001252Muscular hypotonia0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM1712174801600890
HP:0001252HP:0001252Muscular hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1712174801600890
HP:0001252HP:0001252Muscular hypotonia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA1671114803143450
HP:0001252HP:0001252Muscular hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1671114803143450
HP:0001252HP:0001252Muscular hypotonia0HBA1 CL E G H303998791ORPHA12173144823141800
HP:0001252HP:0001252Muscular hypotonia0HBA2 CL E G H304098791ORPHA12962294824141850
HP:0001252HP:0001252Muscular hypotonia0HDAC4 CL E G H97591001Branchial arch defectsORPHA11613614063605314
HP:0001252HP:0001252Muscular hypotonia0HESX1 CL E G H8820226307ORPHA127384877601802
HP:0001252HP:0001252Muscular hypotonia0HIBCH CL E G H2627588639ORPHA119724908610690
HP:0001252HP:0001252Muscular hypotonia0HIRA CL E G H7290567ORPHA153414916600237
HP:0001252HP:0001252Muscular hypotonia0HLCS CL E G H314179242ORPHA1492774976609018
HP:0001252HP:0001252Muscular hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM1492774976609018
HP:0001252HP:0001252Muscular hypotonia0HNRNPU CL E G H3192238769ORPHA1682215048602869
HP:0001252HP:0001252Muscular hypotonia0HPD CL E G H32422118ORPHA19575147609695
HP:0001252HP:0001252Muscular hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282585157308000
HP:0001252HP:0001252Muscular hypotonia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342205173190020
HP:0001252HP:0001252Muscular hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171644800300256
HP:0001252HP:0001252Muscular hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM16905261118190
HP:0001252HP:0001252Muscular hypotonia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1210226558610693
HP:0001252HP:0001252Muscular hypotonia0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM17715383147650
HP:0001252HP:0001252Muscular hypotonia0IDUA CL E G H342593473ORPHA12914305391252800
HP:0001252HP:0001252Muscular hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12813818873606951
HP:0001252HP:0001252Muscular hypotonia0IFT140 CL E G H974265ORPHA17225829077614620
HP:0001252HP:0001252Muscular hypotonia0IMPDH1 CL E G H361465ORPHA124886052146690
HP:0001252HP:0001252Muscular hypotonia0INPP5E CL E G H56623220493ORPHA15420021474613037
HP:0001252HP:0001252Muscular hypotonia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15420021474613037
HP:0001252HP:0001252Muscular hypotonia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15420021474613037
HP:0001252HP:0001252Muscular hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15420021474613037
HP:0001252HP:0001252Muscular hypotonia0INPP5K CL E G H51763559ORPHA1109533882607875
HP:0001252HP:0001252Muscular hypotonia0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA132316080600829
HP:0001252HP:0001252Muscular hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM132316080600829
HP:0001252HP:0001252Muscular hypotonia0IQCB1 CL E G H965765ORPHA1439128949609237
HP:0001252HP:0001252Muscular hypotonia0IQSEC2 CL E G H23096819ORPHA15740629059300522
HP:0001252HP:0001252Muscular hypotonia0ISPD CL E G H729920899ORPHA135937276614631
HP:0001252HP:0001252Muscular hypotonia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111236139605025
HP:0001252HP:0001252Muscular hypotonia0ITGA7 CL E G H36792020ORPHA1102926143600536
HP:0001252HP:0001252Muscular hypotonia0ITGB6 CL E G H36942850ORPHA17276161147558
HP:0001252HP:0001252Muscular hypotonia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA1953396180147265
HP:0001252HP:0001252Muscular hypotonia0IYD CL E G H38943495716ORPHA1514521071612025
HP:0001252HP:0001252Muscular hypotonia0JMJD1C CL E G H221037567ORPHA12921512313604503
HP:0001252HP:0001252Muscular hypotonia0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM11130919309607704
HP:0001252HP:0001252Muscular hypotonia0KAT6B CL E G H23522648ORPHA17623917582605880
HP:0001252HP:0001252Muscular hypotonia0KAT6B CL E G H235223047ORPHA17623917582605880
HP:0001252HP:0001252Muscular hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17623917582605880
HP:0001252HP:0001252Muscular hypotonia0KCNAB2 CL E G H85141606ORPHA15596229601142
HP:0001252HP:0001252Muscular hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM112536235176264
HP:0001252HP:0001252Muscular hypotonia0KCNE5 CL E G H2363086818ORPHA141636241300328
HP:0001252HP:0001252Muscular hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113396250603305
HP:0001252HP:0001252Muscular hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113396250603305
HP:0001252HP:0001252Muscular hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM1331706256602208
HP:0001252HP:0001252Muscular hypotonia0KCNJ13 CL E G H376965ORPHA110666259603208
HP:0001252HP:0001252Muscular hypotonia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM12496283605874
HP:0001252HP:0001252Muscular hypotonia0KCNQ2 CL E G H3785439218ORPHA13148126296602235
HP:0001252HP:0001252Muscular hypotonia0KCNQ2 CL E G H3785306ORPHA13148126296602235
HP:0001252HP:0001252Muscular hypotonia0KCNQ3 CL E G H3786306ORPHA1255116297602232
HP:0001252HP:0001252Muscular hypotonia0KDM6A CL E G H74032322ORPHA18125512637300128
HP:0001252HP:0001252Muscular hypotonia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18125512637300128
HP:0001252HP:0001252Muscular hypotonia0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM18125512637300128
HP:0001252HP:0001252Muscular hypotonia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA123629068616650
HP:0001252HP:0001252Muscular hypotonia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA1318619960610178
HP:0001252HP:0001252Muscular hypotonia0KIF11 CL E G H38322526ORPHA170776388148760
HP:0001252HP:0001252Muscular hypotonia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM143742888601255
HP:0001252HP:0001252Muscular hypotonia0KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0001252HP:0001252Muscular hypotonia0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM142466391603213
HP:0001252HP:0001252Muscular hypotonia0KMT2A CL E G H4297319182ORPHA11271967132159555
HP:0001252HP:0001252Muscular hypotonia0KMT2D CL E G H80852322ORPHA171210707133602113
HP:0001252HP:0001252Muscular hypotonia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171210707133602113
HP:0001252HP:0001252Muscular hypotonia0KRAS CL E G H38453339ORPHA1452626407190070
HP:0001252HP:0001252Muscular hypotonia0KRAS CL E G H3845648ORPHA1452626407190070
HP:0001252HP:0001252Muscular hypotonia0KRAS CL E G H3845144ORPHA1452626407190070
HP:0001252HP:0001252Muscular hypotonia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452626407190070
HP:0001252HP:0001252Muscular hypotonia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1452626407190070
HP:0001252HP:0001252Muscular hypotonia0L2HGDH CL E G H7994479314ORPHA1816320499609584
HP:0001252HP:0001252Muscular hypotonia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM138010516482156225
HP:0001252HP:0001252Muscular hypotonia0LAMB2 CL E G H391398915ORPHA11272156487150325
HP:0001252HP:0001252Muscular hypotonia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM11272156487150325
HP:0001252HP:0001252Muscular hypotonia0LARGE1 CL E G H9215588ORPHA1282966511603590
HP:0001252HP:0001252Muscular hypotonia0LARGE1 CL E G H9215899ORPHA1282966511603590
HP:0001252HP:0001252Muscular hypotonia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1282966511603590
HP:0001252HP:0001252Muscular hypotonia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1282966511603590
HP:0001252HP:0001252Muscular hypotonia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1415325726300964
HP:0001252HP:0001252Muscular hypotonia0LCA5 CL E G H16769165ORPHA1499131923611408
HP:0001252HP:0001252Muscular hypotonia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141166556604407
HP:0001252HP:0001252Muscular hypotonia0LGI4 CL E G H1631752680ORPHA192818712608303
HP:0001252HP:0001252Muscular hypotonia0LHX3 CL E G H8022226307ORPHA1181136595600577
HP:0001252HP:0001252Muscular hypotonia0LHX4 CL E G H89884226307ORPHA1238221734602146
HP:0001252HP:0001252Muscular hypotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1321936597151443
HP:0001252HP:0001252Muscular hypotonia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171506613601329
HP:0001252HP:0001252Muscular hypotonia0LIPT1 CL E G H51601255241ORPHA194729569610284
HP:0001252HP:0001252Muscular hypotonia0LMBRD1 CL E G H5578879284ORPHA197223038612625
HP:0001252HP:0001252Muscular hypotonia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM197223038612625
HP:0001252HP:0001252Muscular hypotonia0LMNA CL E G H4000157973ORPHA15749186636150330
HP:0001252HP:0001252Muscular hypotonia0LONP1 CL E G H93611458ORPHA119439479605490
HP:0001252HP:0001252Muscular hypotonia0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM119439479605490
HP:0001252HP:0001252Muscular hypotonia0LRAT CL E G H922765ORPHA124946685604863
HP:0001252HP:0001252Muscular hypotonia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12211896697603506
HP:0001252HP:0001252Muscular hypotonia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM12133615714607544
HP:0001252HP:0001252Muscular hypotonia0LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM16436719246530
HP:0001252HP:0001252Muscular hypotonia0LZTR1 CL E G H8216648ORPHA1865296742600574
HP:0001252HP:0001252Muscular hypotonia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11512416826609458
HP:0001252HP:0001252Muscular hypotonia0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM1232036840176872
HP:0001252HP:0001252Muscular hypotonia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232036840176872
HP:0001252HP:0001252Muscular hypotonia0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353026842601263
HP:0001252HP:0001252Muscular hypotonia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353026842601263
HP:0001252HP:0001252Muscular hypotonia0MAP3K20 CL E G H517762020ORPHA172517797609479
HP:0001252HP:0001252Muscular hypotonia0MBD5 CL E G H55777228402ORPHA19150720444611472
HP:0001252HP:0001252Muscular hypotonia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11082026936609010
HP:0001252HP:0001252Muscular hypotonia0MCCC1 CL E G H569226Intellectual disability (mild)CN240508ORPHA11082026936609010
HP:0001252HP:0001252Muscular hypotonia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11171556937609014
HP:0001252HP:0001252Muscular hypotonia0MCCC2 CL E G H640876Intellectual disability (mild)CN240508ORPHA11171556937609014
HP:0001252HP:0001252Muscular hypotonia0MCOLN1 CL E G H57192578Akesson syndromeORPHA13612713356605248
HP:0001252HP:0001252Muscular hypotonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13612713356605248
HP:0001252HP:0001252Muscular hypotonia0MED12 CL E G H9968776ORPHA13455111957300188
HP:0001252HP:0001252Muscular hypotonia0MEF2C CL E G H4208228384ORPHA1892376996600662
HP:0001252HP:0001252Muscular hypotonia0MKS1 CL E G H54903220493ORPHA1522497121609883
HP:0001252HP:0001252Muscular hypotonia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA1522497121609883
HP:0001252HP:0001252Muscular hypotonia0MLH1 CL E G H4292144ORPHA1120326767127120436
HP:0001252HP:0001252Muscular hypotonia0MLH3 CL E G H27030144ORPHA1322917128604395
HP:0001252HP:0001252Muscular hypotonia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1614612744605678
HP:0001252HP:0001252Muscular hypotonia0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1391757150606761
HP:0001252HP:0001252Muscular hypotonia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17619318871607481
HP:0001252HP:0001252Muscular hypotonia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14219219331607568
HP:0001252HP:0001252Muscular hypotonia0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19520024525609831
HP:0001252HP:0001252Muscular hypotonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM1147725221611935
HP:0001252HP:0001252Muscular hypotonia0MMUT CL E G H459479312ORPHA13367526609058
HP:0001252HP:0001252Muscular hypotonia0MMUT CL E G H4594289916ORPHA13367526609058
HP:0001252HP:0001252Muscular hypotonia0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM13367526609058
HP:0001252HP:0001252Muscular hypotonia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1811324862601336
HP:0001252HP:0001252Muscular hypotonia0MPDU1 CL E G H952679323ORPHA17607207604041
HP:0001252HP:0001252Muscular hypotonia0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211187216154550
HP:0001252HP:0001252Muscular hypotonia0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12463547225159440
HP:0001252HP:0001252Muscular hypotonia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM197314508605810
HP:0001252HP:0001252Muscular hypotonia0MSH2 CL E G H4436144ORPHA1126434007325609309
HP:0001252HP:0001252Muscular hypotonia0MSH6 CL E G H2956144ORPHA160239947329600678
HP:0001252HP:0001252Muscular hypotonia0MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001252HP:0001252Muscular hypotonia0MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001252HP:0001252Muscular hypotonia0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001252HP:0001252Muscular hypotonia0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001252HP:0001252Muscular hypotonia0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001252HP:0001252Muscular hypotonia0MTFMT CL E G H123263255241ORPHA1176929666611766
HP:0001252HP:0001252Muscular hypotonia0MTM1 CL E G H4534596Albright like syndromeORPHA13274307448300415
HP:0001252HP:0001252Muscular hypotonia0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA1362197473602568
HP:0001252HP:0001252Muscular hypotonia0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM1362197473602568
HP:0001252HP:0001252Muscular hypotonia0MTTP CL E G H454714Bilateral squintCN228276ORPHA1761077467157147
HP:0001252HP:0001252Muscular hypotonia0MVK CL E G H459829ORPHA11832157530251170
HP:0001252HP:0001252Muscular hypotonia0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832157530251170
HP:0001252HP:0001252Muscular hypotonia0MYL2 CL E G H46332020ORPHA1672027583160781
HP:0001252HP:0001252Muscular hypotonia0MYMK CL E G H3898271358ORPHA174333778615345
HP:0001252HP:0001252Muscular hypotonia0MYO5A CL E G H464433445ORPHA112557602160777
HP:0001252HP:0001252Muscular hypotonia0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM112557602160777
HP:0001252HP:0001252Muscular hypotonia0NAGA CL E G H466879279ORPHA111897631104170
HP:0001252HP:0001252Muscular hypotonia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM111897631104170
HP:0001252HP:0001252Muscular hypotonia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1124219237605202
HP:0001252HP:0001252Muscular hypotonia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM1447515625608025
HP:0001252HP:0001252Muscular hypotonia0NDUFA10 CL E G H4705255241ORPHA162067684603835
HP:0001252HP:0001252Muscular hypotonia0NDUFA12 CL E G H55967255241ORPHA142423987614530
HP:0001252HP:0001252Muscular hypotonia0NDUFA13 CL E G H51079255241ORPHA131417194609435
HP:0001252HP:0001252Muscular hypotonia0NDUFA2 CL E G H4695255241ORPHA14417685602137
HP:0001252HP:0001252Muscular hypotonia0NDUFA4 CL E G H4697255241ORPHA12517687603833
HP:0001252HP:0001252Muscular hypotonia0NDUFA9 CL E G H4704255241ORPHA131087693603834
HP:0001252HP:0001252Muscular hypotonia0NDUFAF2 CL E G H91942255241ORPHA187528086609653
HP:0001252HP:0001252Muscular hypotonia0NDUFAF5 CL E G H79133255241ORPHA1129015899612360
HP:0001252HP:0001252Muscular hypotonia0NDUFAF6 CL E G H137682255241ORPHA11010328625612392
HP:0001252HP:0001252Muscular hypotonia0NDUFS1 CL E G H4719255241ORPHA1281377707157655
HP:0001252HP:0001252Muscular hypotonia0NDUFS2 CL E G H4720255241ORPHA124997708602985
HP:0001252HP:0001252Muscular hypotonia0NDUFS3 CL E G H4722255241ORPHA13487710603846
HP:0001252HP:0001252Muscular hypotonia0NDUFS4 CL E G H4724255241ORPHA117567711602694
HP:0001252HP:0001252Muscular hypotonia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117567711602694
HP:0001252HP:0001252Muscular hypotonia0NDUFS7 CL E G H374291255241ORPHA18827714601825
HP:0001252HP:0001252Muscular hypotonia0NDUFS8 CL E G H4728255241ORPHA113597715602141
HP:0001252HP:0001252Muscular hypotonia0NDUFV1 CL E G H4723255241ORPHA1361167716161015
HP:0001252HP:0001252Muscular hypotonia0NDUFV2 CL E G H4729255241ORPHA181217717600532
HP:0001252HP:0001252Muscular hypotonia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1411512768606026
HP:0001252HP:0001252Muscular hypotonia0NEU1 CL E G H4758812ORPHA164607758608272
HP:0001252HP:0001252Muscular hypotonia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM164607758608272
HP:0001252HP:0001252Muscular hypotonia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041027788164005
HP:0001252HP:0001252Muscular hypotonia0NKX2-1 CL E G H708095713ORPHA11439611825600635
HP:0001252HP:0001252Muscular hypotonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM11439611825600635
HP:0001252HP:0001252Muscular hypotonia0NKX2-5 CL E G H148295713ORPHA11121712488600584
HP:0001252HP:0001252Muscular hypotonia0NKX2-5 CL E G H148295712ORPHA11121712488600584
HP:0001252HP:0001252Muscular hypotonia0NMNAT1 CL E G H6480265ORPHA1765617877608700
HP:0001252HP:0001252Muscular hypotonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM14785427897607623
HP:0001252HP:0001252Muscular hypotonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1276714537601015
HP:0001252HP:0001252Muscular hypotonia0NPHP1 CL E G H4867220497ORPHA1793287905607100
HP:0001252HP:0001252Muscular hypotonia0NRAS CL E G H4893648ORPHA1141347989164790
HP:0001252HP:0001252Muscular hypotonia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1141347989164790
HP:0001252HP:0001252Muscular hypotonia0NSD1 CL E G H64324821ORPHA152580314234606681
HP:0001252HP:0001252Muscular hypotonia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11424512766602952
HP:0001252HP:0001252Muscular hypotonia0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11624502567300170
HP:0001252HP:0001252Muscular hypotonia0OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11388124613022
HP:0001252HP:0001252Muscular hypotonia0OPHN1 CL E G H4983137831ORPHA1432208148300127
HP:0001252HP:0001252Muscular hypotonia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432208148300127
HP:0001252HP:0001252Muscular hypotonia0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM1176225896610277
HP:0001252HP:0001252Muscular hypotonia0P4HB CL E G H50342050Ectodermal dysplasia Margarita typeORPHA111278548176790
HP:0001252HP:0001252Muscular hypotonia0PAFAH1B1 CL E G H5048217385ORPHA11703208574601545
HP:0001252HP:0001252Muscular hypotonia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA15713128620607108
HP:0001252HP:0001252Muscular hypotonia0PAX8 CL E G H784995712ORPHA151778622167415
HP:0001252HP:0001252Muscular hypotonia0PAX8 CL E G H784995713ORPHA151778622167415
HP:0001252HP:0001252Muscular hypotonia0PAX8 CL E G H784995720ORPHA151778622167415
HP:0001252HP:0001252Muscular hypotonia0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM151778622167415
HP:0001252HP:0001252Muscular hypotonia0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM1421878636608786
HP:0001252HP:0001252Muscular hypotonia0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM111398646126090
HP:0001252HP:0001252Muscular hypotonia0PCDH19 CL E G H5752633069ORPHA120555414270300460
HP:0001252HP:0001252Muscular hypotonia0PCYT1A CL E G H513065ORPHA1201068754123695
HP:0001252HP:0001252Muscular hypotonia0PDHA1 CL E G H5160255241ORPHA11933098806300502
HP:0001252HP:0001252Muscular hypotonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11933098806300502
HP:0001252HP:0001252Muscular hypotonia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM13939279605993
HP:0001252HP:0001252Muscular hypotonia0PET100 CL E G H100131801255241ORPHA122540038614770
HP:0001252HP:0001252Muscular hypotonia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122540038614770
HP:0001252HP:0001252Muscular hypotonia0PEX1 CL E G H5189772ORPHA11403398850602136
HP:0001252HP:0001252Muscular hypotonia0PEX1 CL E G H518944MYBPC1-related conditionORPHA11403398850602136
HP:0001252HP:0001252Muscular hypotonia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11403398850602136
HP:0001252HP:0001252Muscular hypotonia0PEX10 CL E G H5192772ORPHA1322628851602859
HP:0001252HP:0001252Muscular hypotonia0PEX10 CL E G H519244MYBPC1-related conditionORPHA1322628851602859
HP:0001252HP:0001252Muscular hypotonia0PEX11B CL E G H8799772ORPHA182098853603867
HP:0001252HP:0001252Muscular hypotonia0PEX11B CL E G H879944MYBPC1-related conditionORPHA182098853603867
HP:0001252HP:0001252Muscular hypotonia0PEX12 CL E G H5193772ORPHA1371318854601758
HP:0001252HP:0001252Muscular hypotonia0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1371318854601758
HP:0001252HP:0001252Muscular hypotonia0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371318854601758
HP:0001252HP:0001252Muscular hypotonia0PEX13 CL E G H5194772ORPHA1101338855601789
HP:0001252HP:0001252Muscular hypotonia0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101338855601789
HP:0001252HP:0001252Muscular hypotonia0PEX14 CL E G H5195772ORPHA151278856601791
HP:0001252HP:0001252Muscular hypotonia0PEX14 CL E G H519544MYBPC1-related conditionORPHA151278856601791
HP:0001252HP:0001252Muscular hypotonia0PEX16 CL E G H9409772ORPHA1151058857603360
HP:0001252HP:0001252Muscular hypotonia0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151058857603360
HP:0001252HP:0001252Muscular hypotonia0PEX19 CL E G H5824772ORPHA141019713600279
HP:0001252HP:0001252Muscular hypotonia0PEX19 CL E G H582444MYBPC1-related conditionORPHA141019713600279
HP:0001252HP:0001252Muscular hypotonia0PEX2 CL E G H5828772ORPHA1181499717170993
HP:0001252HP:0001252Muscular hypotonia0PEX2 CL E G H582844MYBPC1-related conditionORPHA1181499717170993
HP:0001252HP:0001252Muscular hypotonia0PEX26 CL E G H55670772ORPHA12720622965608666
HP:0001252HP:0001252Muscular hypotonia0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12720622965608666
HP:0001252HP:0001252Muscular hypotonia0PEX3 CL E G H8504772ORPHA110818858603164
HP:0001252HP:0001252Muscular hypotonia0PEX3 CL E G H850444MYBPC1-related conditionORPHA110818858603164
HP:0001252HP:0001252Muscular hypotonia0PEX5 CL E G H5830772ORPHA1141969719600414
HP:0001252HP:0001252Muscular hypotonia0PEX5 CL E G H583044MYBPC1-related conditionORPHA1141969719600414
HP:0001252HP:0001252Muscular hypotonia0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1141969719600414
HP:0001252HP:0001252Muscular hypotonia0PEX6 CL E G H5190772ORPHA11092578859601498
HP:0001252HP:0001252Muscular hypotonia0PEX6 CL E G H519044MYBPC1-related conditionORPHA11092578859601498
HP:0001252HP:0001252Muscular hypotonia0PEX7 CL E G H5191773ORPHA1531448860601757
HP:0001252HP:0001252Muscular hypotonia0PHF6 CL E G H84295127ORPHA12921218145300414
HP:0001252HP:0001252Muscular hypotonia0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12921218145300414
HP:0001252HP:0001252Muscular hypotonia0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM133858931172471
HP:0001252HP:0001252Muscular hypotonia0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA1882239143603851
HP:0001252HP:0001252Muscular hypotonia0PHYH CL E G H5264773ORPHA137748940602026
HP:0001252HP:0001252Muscular hypotonia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA186323352607532
HP:0001252HP:0001252Muscular hypotonia0PIEZO2 CL E G H638952461ORPHA13219426270613629
HP:0001252HP:0001252Muscular hypotonia0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13219426270613629
HP:0001252HP:0001252Muscular hypotonia0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111738966605947
HP:0001252HP:0001252Muscular hypotonia0PIK3CA CL E G H529060040ORPHA1572888975171834
HP:0001252HP:0001252Muscular hypotonia0PIK3CA CL E G H5290144ORPHA1572888975171834
HP:0001252HP:0001252Muscular hypotonia0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1572888975171834
HP:0001252HP:0001252Muscular hypotonia0PLA2G6 CL E G H839835069ORPHA11792009039603604
HP:0001252HP:0001252Muscular hypotonia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11792009039603604
HP:0001252HP:0001252Muscular hypotonia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1423569081153454
HP:0001252HP:0001252Muscular hypotonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13522569086300401
HP:0001252HP:0001252Muscular hypotonia0PLPBP CL E G H112123006ORPHA112569457604436
HP:0001252HP:0001252Muscular hypotonia0PLXND1 CL E G H23129570ORPHA18109107604282
HP:0001252HP:0001252Muscular hypotonia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11292729115601785
HP:0001252HP:0001252Muscular hypotonia0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11652779118601097
HP:0001252HP:0001252Muscular hypotonia0PMPCA CL E G H232031170ORPHA186618667613036
HP:0001252HP:0001252Muscular hypotonia0PMS1 CL E G H5378144ORPHA136819121600258
HP:0001252HP:0001252Muscular hypotonia0PMS2 CL E G H5395144ORPHA136321509122600259
HP:0001252HP:0001252Muscular hypotonia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341007892164050
HP:0001252HP:0001252Muscular hypotonia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16120116268603197
HP:0001252HP:0001252Muscular hypotonia0POLG CL E G H5428726ORPHA130010159179174763
HP:0001252HP:0001252Muscular hypotonia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130010159179174763
HP:0001252HP:0001252Muscular hypotonia0POMGNT1 CL E G H55624899ORPHA18936419139606822
HP:0001252HP:0001252Muscular hypotonia0POMGNT1 CL E G H55624588ORPHA18936419139606822
HP:0001252HP:0001252Muscular hypotonia0POMGNT2 CL E G H84892899ORPHA1911925902614828
HP:0001252HP:0001252Muscular hypotonia0POMK CL E G H84197899ORPHA1810826267615247
HP:0001252HP:0001252Muscular hypotonia0POMT1 CL E G H10585899ORPHA1964119202607423
HP:0001252HP:0001252Muscular hypotonia0POMT1 CL E G H10585588ORPHA1964119202607423
HP:0001252HP:0001252Muscular hypotonia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1964119202607423
HP:0001252HP:0001252Muscular hypotonia0POMT2 CL E G H29954588ORPHA17539219743607439
HP:0001252HP:0001252Muscular hypotonia0POMT2 CL E G H29954899ORPHA17539219743607439
HP:0001252HP:0001252Muscular hypotonia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17539219743607439
HP:0001252HP:0001252Muscular hypotonia0POU1F1 CL E G H5449226307ORPHA146649210173110
HP:0001252HP:0001252Muscular hypotonia0POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM146649210173110
HP:0001252HP:0001252Muscular hypotonia0PPM1B CL E G H5495163693ORPHA11219276603770
HP:0001252HP:0001252Muscular hypotonia0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17329302605983
HP:0001252HP:0001252Muscular hypotonia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM1772749325600722
HP:0001252HP:0001252Muscular hypotonia0PRDM16 CL E G H639761606ORPHA12152214000605557
HP:0001252HP:0001252Muscular hypotonia0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13209352176763
HP:0001252HP:0001252Muscular hypotonia0PREPL CL E G H9581163693ORPHA11814230228609557
HP:0001252HP:0001252Muscular hypotonia0PREPL CL E G H9581163690ORPHA11814230228609557
HP:0001252HP:0001252Muscular hypotonia0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM1284229453606810
HP:0001252HP:0001252Muscular hypotonia0PROP1 CL E G H5626226307ORPHA1421199455601538
HP:0001252HP:0001252Muscular hypotonia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA1322249462311850
HP:0001252HP:0001252Muscular hypotonia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322249462311850
HP:0001252HP:0001252Muscular hypotonia0PRRT2 CL E G H112476306ORPHA110540830500614386
HP:0001252HP:0001252Muscular hypotonia0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16242513797605725
HP:0001252HP:0001252Muscular hypotonia0PSAP CL E G H5660139406ORPHA1271469498176801
HP:0001252HP:0001252Muscular hypotonia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1271469498176801
HP:0001252HP:0001252Muscular hypotonia0PTCH1 CL E G H572777301ORPHA152913809585601309
HP:0001252HP:0001252Muscular hypotonia0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17359587612792
HP:0001252HP:0001252Muscular hypotonia0PTPN11 CL E G H5781648ORPHA11433809644176876
HP:0001252HP:0001252Muscular hypotonia0PTS CL E G H580513Brain malformationC0266449ORPHA1112749689612719
HP:0001252HP:0001252Muscular hypotonia0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1910715508608109
HP:0001252HP:0001252Muscular hypotonia0PYCR1 CL E G H58312078ORPHA1411029721179035
HP:0001252HP:0001252Muscular hypotonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM167989752612676
HP:0001252HP:0001252Muscular hypotonia0RAB18 CL E G H229312510ORPHA1510714244602207
HP:0001252HP:0001252Muscular hypotonia0RAB3GAP1 CL E G H229302510ORPHA16714917063602536
HP:0001252HP:0001252Muscular hypotonia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16714917063602536
HP:0001252HP:0001252Muscular hypotonia0RAB3GAP2 CL E G H257822510ORPHA11620517168609275
HP:0001252HP:0001252Muscular hypotonia0RAF1 CL E G H5894648ORPHA1544049829164760
HP:0001252HP:0001252Muscular hypotonia0RAI1 CL E G H10743819ORPHA11163689834607642
HP:0001252HP:0001252Muscular hypotonia0RAI1 CL E G H107431713ORPHA11163689834607642
HP:0001252HP:0001252Muscular hypotonia0RAP1A CL E G H59062322ORPHA12119855179520
HP:0001252HP:0001252Muscular hypotonia0RAP1B CL E G H59082322ORPHA11129857179530
HP:0001252HP:0001252Muscular hypotonia0RASA2 CL E G H5922648ORPHA13309872601589
HP:0001252HP:0001252Muscular hypotonia0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA111137879884614041
HP:0001252HP:0001252Muscular hypotonia0RD3 CL E G H34303565ORPHA11311419689180040
HP:0001252HP:0001252Muscular hypotonia0RDH12 CL E G H14522665ORPHA11097319977608830
HP:0001252HP:0001252Muscular hypotonia0RERE CL E G H4731606ORPHA125979965605226
HP:0001252HP:0001252Muscular hypotonia0RET CL E G H597999803Haddad syndromeC1859587ORPHA143210659967164761
HP:0001252HP:0001252Muscular hypotonia0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143210659967164761
HP:0001252HP:0001252Muscular hypotonia0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1621225964613114
HP:0001252HP:0001252Muscular hypotonia0REV3L CL E G H5980570ORPHA19239968602776
HP:0001252HP:0001252Muscular hypotonia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141489970600404
HP:0001252HP:0001252Muscular hypotonia0RFT1 CL E G H91869244310ORPHA11311930220611908
HP:0001252HP:0001252Muscular hypotonia0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM1412618750610222
HP:0001252HP:0001252Muscular hypotonia0RIT1 CL E G H6016648ORPHA1267910023609591
HP:0001252HP:0001252Muscular hypotonia0RMRP CL E G H6023175ORPHA112330410031157660
HP:0001252HP:0001252Muscular hypotonia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA1147821698609948
HP:0001252HP:0001252Muscular hypotonia0RPE65 CL E G H612165ORPHA120818010294180069
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1 CL E G H5709665ORPHA114918313436605446
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1L CL E G H23322220497ORPHA15125529168610937
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15125529168610937
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15125529168610937
HP:0001252HP:0001252Muscular hypotonia0RPL10 CL E G H6134435938ORPHA1622510298312173
HP:0001252HP:0001252Muscular hypotonia0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117127510432300075
HP:0001252HP:0001252Muscular hypotonia0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117127510432300075
HP:0001252HP:0001252Muscular hypotonia0RRAS CL E G H6237648ORPHA124810447165090
HP:0001252HP:0001252Muscular hypotonia0RREB1 CL E G H6239567ORPHA1124310449602209
HP:0001252HP:0001252Muscular hypotonia0RRM2B CL E G H50484480ORPHA14318117296604712
HP:0001252HP:0001252Muscular hypotonia0RXYLT1 CL E G H10329899ORPHA187713530605862
HP:0001252HP:0001252Muscular hypotonia0RYR1 CL E G H6261597ORPHA1688238210483180901
HP:0001252HP:0001252Muscular hypotonia0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688238210483180901
HP:0001252HP:0001252Muscular hypotonia0SATB2 CL E G H23314251019ORPHA110618421637608148
HP:0001252HP:0001252Muscular hypotonia0SC5D CL E G H630946059ORPHA1612210547602286
HP:0001252HP:0001252Muscular hypotonia0SCN1A CL E G H632333069ORPHA11611166110585182389
HP:0001252HP:0001252Muscular hypotonia0SCN1B CL E G H632433069ORPHA13121910586600235
HP:0001252HP:0001252Muscular hypotonia0SCN2A CL E G H632633069ORPHA126877510588182390
HP:0001252HP:0001252Muscular hypotonia0SCN2A CL E G H6326306ORPHA126877510588182390
HP:0001252HP:0001252Muscular hypotonia0SCN8A CL E G H6334306ORPHA110361110596600702
HP:0001252HP:0001252Muscular hypotonia0SCN9A CL E G H633533069ORPHA112974610597603415
HP:0001252HP:0001252Muscular hypotonia0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM112974610597603415
HP:0001252HP:0001252Muscular hypotonia0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM157510603603644
HP:0001252HP:0001252Muscular hypotonia0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM13722110604604272
HP:0001252HP:0001252Muscular hypotonia0SDHA CL E G H6389255241ORPHA19189510680600857
HP:0001252HP:0001252Muscular hypotonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM19189510680600857
HP:0001252HP:0001252Muscular hypotonia0SEC24C CL E G H9632567ORPHA11510705607185
HP:0001252HP:0001252Muscular hypotonia0SEC24D CL E G H98712050Ectodermal dysplasia Margarita typeORPHA1123310706607186
HP:0001252HP:0001252Muscular hypotonia0SELENON CL E G H571902020ORPHA16324215999606210
HP:0001252HP:0001252Muscular hypotonia0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM16324215999606210
HP:0001252HP:0001252Muscular hypotonia0SEMA3E CL E G H9723138ORPHA147710727608166
HP:0001252HP:0001252Muscular hypotonia0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA1811010736609297
HP:0001252HP:0001252Muscular hypotonia0SETD2 CL E G H29072821ORPHA11922618420612778
HP:0001252HP:0001252Muscular hypotonia0SIK1 CL E G H1500941935ORPHA1724411142605705
HP:0001252HP:0001252Muscular hypotonia0SIL1 CL E G H64374559ORPHA14912724624608005
HP:0001252HP:0001252Muscular hypotonia0SIM1 CL E G H6492171829ORPHA1536010882603128
HP:0001252HP:0001252Muscular hypotonia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM1165819353607776
HP:0001252HP:0001252Muscular hypotonia0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1917310889603714
HP:0001252HP:0001252Muscular hypotonia0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1113710892606326
HP:0001252HP:0001252Muscular hypotonia0SKI CL E G H64972462ORPHA12441310896164780
HP:0001252HP:0001252Muscular hypotonia0SKI CL E G H64971606ORPHA12441310896164780
HP:0001252HP:0001252Muscular hypotonia0SLC13A5 CL E G H2841113006ORPHA12123123089608305
HP:0001252HP:0001252Muscular hypotonia0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15514510933604322
HP:0001252HP:0001252Muscular hypotonia0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15514510933604322
HP:0001252HP:0001252Muscular hypotonia0SLC19A3 CL E G H80704255241ORPHA13821516266606152
HP:0001252HP:0001252Muscular hypotonia0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116137410969603377
HP:0001252HP:0001252Muscular hypotonia0SLC25A19 CL E G H6038699742ORPHA187514409606521
HP:0001252HP:0001252Muscular hypotonia0SLC25A22 CL E G H797511935ORPHA11026019954609302
HP:0001252HP:0001252Muscular hypotonia0SLC25A3 CL E G H525091130ORPHA156010989600370
HP:0001252HP:0001252Muscular hypotonia0SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM156010989600370
HP:0001252HP:0001252Muscular hypotonia0SLC26A2 CL E G H1836628ORPHA15523010994606718
HP:0001252HP:0001252Muscular hypotonia0SLC26A4 CL E G H517295713ORPHA15644518818605646
HP:0001252HP:0001252Muscular hypotonia0SLC26A4 CL E G H517295720ORPHA15644518818605646
HP:0001252HP:0001252Muscular hypotonia0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14015120305609826
HP:0001252HP:0001252Muscular hypotonia0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM1711220197605881
HP:0001252HP:0001252Muscular hypotonia0SLC3A1 CL E G H6519163690ORPHA124112011025104614
HP:0001252HP:0001252Muscular hypotonia0SLC3A1 CL E G H6519163693ORPHA124112011025104614
HP:0001252HP:0001252Muscular hypotonia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12311430521611672
HP:0001252HP:0001252Muscular hypotonia0SLC52A2 CL E G H7958197229ORPHA12718330224607882
HP:0001252HP:0001252Muscular hypotonia0SLC52A3 CL E G H11327897229ORPHA14417816187613350
HP:0001252HP:0001252Muscular hypotonia0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM14417816187613350
HP:0001252HP:0001252Muscular hypotonia0SLC5A5 CL E G H652895716ORPHA1187011040601843
HP:0001252HP:0001252Muscular hypotonia0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA12514927960608893
HP:0001252HP:0001252Muscular hypotonia0SLC6A8 CL E G H653552503ORPHA113944111055300036
HP:0001252HP:0001252Muscular hypotonia0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16716111065603593
HP:0001252HP:0001252Muscular hypotonia0SMARCA4 CL E G H65971465ORPHA157172711100603254
HP:0001252HP:0001252Muscular hypotonia0SMARCB1 CL E G H65981465ORPHA111934211103601607
HP:0001252HP:0001252Muscular hypotonia0SMARCE1 CL E G H66051465ORPHA11315911109603111
HP:0001252HP:0001252Muscular hypotonia0SMC1A CL E G H8243319182ORPHA110035011111300040
HP:0001252HP:0001252Muscular hypotonia0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125431811120607608
HP:0001252HP:0001252Muscular hypotonia0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11518711123300105
HP:0001252HP:0001252Muscular hypotonia0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM11343711133604202
HP:0001252HP:0001252Muscular hypotonia0SOS1 CL E G H6654648ORPHA17551511187182530
HP:0001252HP:0001252Muscular hypotonia0SOS2 CL E G H6655648ORPHA1621211188601247
HP:0001252HP:0001252Muscular hypotonia0SOX10 CL E G H6663163746ORPHA115113911190602229
HP:0001252HP:0001252Muscular hypotonia0SOX11 CL E G H66641465ORPHA1144711191600898
HP:0001252HP:0001252Muscular hypotonia0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM11058611195184429
HP:0001252HP:0001252Muscular hypotonia0SOX5 CL E G H6660313892ORPHA1298411201604975
HP:0001252HP:0001252Muscular hypotonia0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114916311204608160
HP:0001252HP:0001252Muscular hypotonia0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM151611219182120
HP:0001252HP:0001252Muscular hypotonia0SPATA7 CL E G H5581265ORPHA1398020423609868
HP:0001252HP:0001252Muscular hypotonia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1810129022614140
HP:0001252HP:0001252Muscular hypotonia0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM179910872604402
HP:0001252HP:0001252Muscular hypotonia0STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM12514411386605921
HP:0001252HP:0001252Muscular hypotonia0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13313030650610745
HP:0001252HP:0001252Muscular hypotonia0STXBP1 CL E G H681233069ORPHA119543011444602926
HP:0001252HP:0001252Muscular hypotonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12915611448603921
HP:0001252HP:0001252Muscular hypotonia0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12810011449611224
HP:0001252HP:0001252Muscular hypotonia0SURF1 CL E G H6834255241ORPHA112815511474185620
HP:0001252HP:0001252Muscular hypotonia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112815511474185620
HP:0001252HP:0001252Muscular hypotonia0TACO1 CL E G H51204255241ORPHA134324316612958
HP:0001252HP:0001252Muscular hypotonia0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM134324316612958
HP:0001252HP:0001252Muscular hypotonia0TBC1D20 CL E G H1286372510ORPHA178516133611663
HP:0001252HP:0001252Muscular hypotonia0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15643829203613577
HP:0001252HP:0001252Muscular hypotonia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA114311586605842
HP:0001252HP:0001252Muscular hypotonia0TBX1 CL E G H6899567ORPHA18243411592602054
HP:0001252HP:0001252Muscular hypotonia0TBX1 CL E G H68991727ORPHA18243411592602054
HP:0001252HP:0001252Muscular hypotonia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114846411634602272
HP:0001252HP:0001252Muscular hypotonia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114846411634602272
HP:0001252HP:0001252Muscular hypotonia0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA168026113609863
HP:0001252HP:0001252Muscular hypotonia0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA11515025774613846
HP:0001252HP:0001252Muscular hypotonia0TG CL E G H703895716ORPHA117221911764188450
HP:0001252HP:0001252Muscular hypotonia0TGFBR2 CL E G H7048144ORPHA114838111773190182
HP:0001252HP:0001252Muscular hypotonia0THRA CL E G H706797927ORPHA1142211796190120
HP:0001252HP:0001252Muscular hypotonia0THRB CL E G H706897927ORPHA117122411799190160
HP:0001252HP:0001252Muscular hypotonia0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM16015111831188250
HP:0001252HP:0001252Muscular hypotonia0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM152818188614123
HP:0001252HP:0001252Muscular hypotonia