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 H144568648ORPHA178923336610627
HP:0001252HP:0001252Hypotonia0A2ML1 CL E G H144568648ORPHA191623336610627
HP:0001252HP:0001252Hypotonia0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM19717366605113
HP:0001252HP:0001252Hypotonia0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM110817366605113
HP:0001252HP:0001252Hypotonia0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM126987604773
HP:0001252HP:0001252Hypotonia0ACAD8 CL E G H27034611283Deficiency of isobutyryl-CoA dehydrogenase611283C1969809OMIM129187604773
HP:0001252HP:0001252Hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0001252HP:0001252Hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0001252HP:0001252Hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001252HP:0001252Hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001252HP:0001252Hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM127591600301
HP:0001252HP:0001252Hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM129091600301
HP:0001252HP:0001252Hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0001252HP:0001252Hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0001252HP:0001252Hypotonia0ACOX1 CL E G H512971ORPHA1388119609751
HP:0001252HP:0001252Hypotonia0ACOX1 CL E G H512971ORPHA1435119609751
HP:0001252HP:0001252Hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM125123171650
HP:0001252HP:0001252Hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM127123171650
HP:0001252HP:0001252Hypotonia0ACSL4 CL E G H218286818ORPHA12333571300157
HP:0001252HP:0001252Hypotonia0ACSL4 CL E G H218286818ORPHA12393571300157
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H582020ORPHA1325129102610
HP:0001252HP:0001252Hypotonia0ACTA1 CL E G H582020ORPHA1362129102610
HP:0001252HP:0001252Hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0001252HP:0001252Hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95137754ORPHA163177104620
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95137754ORPHA178177104620
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001252HP:0001252Hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001252HP:0001252Hypotonia0ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0001252HP:0001252Hypotonia0ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0001252HP:0001252Hypotonia0ADCY6 CL E G H1122680ORPHA168237600294
HP:0001252HP:0001252Hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0001252HP:0001252Hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0001252HP:0001252Hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001252HP:0001252Hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806220493ORPHA165021575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806220493ORPHA182721575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA165021575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA182721575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0001252HP:0001252Hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0001252HP:0001252Hypotonia0AHSG CL E G H1972850ORPHA161349138680
HP:0001252HP:0001252Hypotonia0AIPL1 CL E G H2374665ORPHA1315359604392
HP:0001252HP:0001252Hypotonia0AIPL1 CL E G H2374665ORPHA1374359604392
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0001252HP:0001252Hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1472408610045
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1537408610045
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0001252HP:0001252Hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H5013006ORPHA1619877107323
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H5013006ORPHA1696877107323
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1619877107323
HP:0001252HP:0001252Hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1696877107323
HP:0001252HP:0001252Hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001252HP:0001252Hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001252HP:0001252Hypotonia0ALG12 CL E G H7908779324ORPHA130219358607144
HP:0001252HP:0001252Hypotonia0ALG12 CL E G H7908779324ORPHA139019358607144
HP:0001252HP:0001252Hypotonia0ALG3 CL E G H1019579321ORPHA115923056608750
HP:0001252HP:0001252Hypotonia0ALG3 CL E G H1019579321ORPHA116623056608750
HP:0001252HP:0001252Hypotonia0ALG6 CL E G H2992979320ORPHA131423157604566
HP:0001252HP:0001252Hypotonia0ALG6 CL E G H2992979320ORPHA140423157604566
HP:0001252HP:0001252Hypotonia0ALG9 CL E G H7979679328ORPHA121215672606941
HP:0001252HP:0001252Hypotonia0ALG9 CL E G H7979679328ORPHA122215672606941
HP:0001252HP:0001252Hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1575438171760
HP:0001252HP:0001252Hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1671438171760
HP:0001252HP:0001252Hypotonia0AMMECR1 CL E G H994986818ORPHA1192467300195
HP:0001252HP:0001252Hypotonia0AMMECR1 CL E G H994986818ORPHA1196467300195
HP:0001252HP:0001252Hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001252HP:0001252Hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001252HP:0001252Hypotonia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0001252HP:0001252Hypotonia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H890585335ORPHA1216560300629
HP:0001252HP:0001252Hypotonia0AP1S2 CL E G H890585335ORPHA1219560300629
HP:0001252HP:0001252Hypotonia0APC2 CL E G H10297821ORPHA117924036612034
HP:0001252HP:0001252Hypotonia0APC2 CL E G H10297821ORPHA119424036612034
HP:0001252HP:0001252Hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0001252HP:0001252Hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0001252HP:0001252Hypotonia0AR CL E G H367481ORPHA1479644313700
HP:0001252HP:0001252Hypotonia0AR CL E G H367481ORPHA1525644313700
HP:0001252HP:0001252Hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001252HP:0001252Hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001252HP:0001252Hypotonia0ARID1A CL E G H82891465ORPHA138311110603024
HP:0001252HP:0001252Hypotonia0ARID1A CL E G H82891465ORPHA144211110603024
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H574921465ORPHA186618040614556
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H574921465ORPHA195818040614556
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0001252HP:0001252Hypotonia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0001252HP:0001252Hypotonia0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0001252HP:0001252Hypotonia0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA118425419608922
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA122225419608922
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM118425419608922
HP:0001252HP:0001252Hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM122225419608922
HP:0001252HP:0001252Hypotonia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA164694604695
HP:0001252HP:0001252Hypotonia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA190694604695
HP:0001252HP:0001252Hypotonia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA125120730617612
HP:0001252HP:0001252Hypotonia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA138020730617612
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001252HP:0001252Hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001252HP:0001252Hypotonia0ARVCF CL E G H421567ORPHA1544728602269
HP:0001252HP:0001252Hypotonia0ARVCF CL E G H421567ORPHA1550728602269
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302452ORPHA156518060300382
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302452ORPHA162418060300382
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM156518060300382
HP:0001252HP:0001252Hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM162418060300382
HP:0001252HP:0001252Hypotonia0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443314911ORPHA1245756608034
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443314911ORPHA1281756608034
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1245756608034
HP:0001252HP:0001252Hypotonia0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1281756608034
HP:0001252HP:0001252Hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001252HP:0001252Hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001252HP:0001252Hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0001252HP:0001252Hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0001252HP:0001252Hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM167794601731
HP:0001252HP:0001252Hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM172794601731
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0001252HP:0001252Hypotonia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538198ORPHA1897869300011
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538198ORPHA11003869300011
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538565ORPHA1897869300011
HP:0001252HP:0001252Hypotonia0ATP7A CL E G H538565ORPHA11003869300011
HP:0001252HP:0001252Hypotonia0ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0001252HP:0001252Hypotonia0ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0001252HP:0001252Hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0001252HP:0001252Hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546847ORPHA11103886300032
HP:0001252HP:0001252Hypotonia0ATRX CL E G H546847ORPHA11217886300032
HP:0001252HP:0001252Hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0001252HP:0001252Hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0001252HP:0001252Hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0001252HP:0001252Hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789899ORPHA134328596610194
HP:0001252HP:0001252Hypotonia0B3GALNT2 CL E G H148789899ORPHA141128596610194
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001252HP:0001252Hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001252HP:0001252Hypotonia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0001252HP:0001252Hypotonia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H268379332ORPHA1141924137060
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H268379332ORPHA1146924137060
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0001252HP:0001252Hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1175930604327
HP:0001252HP:0001252Hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1237930604327
HP:0001252HP:0001252Hypotonia0B4GAT1 CL E G H11041899ORPHA112215685605517
HP:0001252HP:0001252Hypotonia0B4GAT1 CL E G H11041899ORPHA115115685605517
HP:0001252HP:0001252Hypotonia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA119624123614144
HP:0001252HP:0001252Hypotonia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA123024123614144
HP:0001252HP:0001252Hypotonia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0001252HP:0001252Hypotonia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0001252HP:0001252Hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0001252HP:0001252Hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0001252HP:0001252Hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0001252HP:0001252Hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001252HP:0001252Hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673648ORPHA16181097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673648ORPHA16801097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0001252HP:0001252Hypotonia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0001252HP:0001252Hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM145217342300553
HP:0001252HP:0001252Hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM147217342300553
HP:0001252HP:0001252Hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM119816512606412
HP:0001252HP:0001252Hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM120916512606412
HP:0001252HP:0001252Hypotonia0BTD CL E G H68679241ORPHA13661122609019
HP:0001252HP:0001252Hypotonia0BTD CL E G H68679241ORPHA14091122609019
HP:0001252HP:0001252Hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0001252HP:0001252Hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0001252HP:0001252Hypotonia0CA8 CL E G H7671766ORPHA1771382114815
HP:0001252HP:0001252Hypotonia0CA8 CL E G H7671766ORPHA1831382114815
HP:0001252HP:0001252Hypotonia0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001252HP:0001252Hypotonia0CAMKMT CL E G H79823163693ORPHA13326276609559
HP:0001252HP:0001252Hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0001252HP:0001252Hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0001252HP:0001252Hypotonia0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA113181514601199
HP:0001252HP:0001252Hypotonia0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA115691514601199
HP:0001252HP:0001252Hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0001252HP:0001252Hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0001252HP:0001252Hypotonia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0001252HP:0001252Hypotonia0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA124228909300859
HP:0001252HP:0001252Hypotonia0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125028909300859
HP:0001252HP:0001252Hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0001252HP:0001252Hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0001252HP:0001252Hypotonia0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA15616892606037
HP:0001252HP:0001252Hypotonia0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA16216892606037
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0001252HP:0001252Hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0001252HP:0001252Hypotonia0CDKN1C CL E G H102885173ORPHA16731786600856
HP:0001252HP:0001252Hypotonia0CDKN1C CL E G H102885173ORPHA18061786600856
HP:0001252HP:0001252Hypotonia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA135424866616690
HP:0001252HP:0001252Hypotonia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA138424866616690
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241220493ORPHA121026690613446
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241220493ORPHA125026690613446
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA121026690613446
HP:0001252HP:0001252Hypotonia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA125026690613446
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018465ORPHA1153529021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H8018465ORPHA1190229021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1153529021610142
HP:0001252HP:0001252Hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1190229021610142
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681220493ORPHA129712370610523
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681220493ORPHA134712370610523
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA129712370610523
HP:0001252HP:0001252Hypotonia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA134712370610523
HP:0001252HP:0001252Hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11281875601443
HP:0001252HP:0001252Hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11391875601443
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0001252HP:0001252Hypotonia0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0001252HP:0001252Hypotonia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0001252HP:0001252Hypotonia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0001252HP:0001252Hypotonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001252HP:0001252Hypotonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001252HP:0001252Hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11862026602024
HP:0001252HP:0001252Hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11872026602024
HP:0001252HP:0001252Hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13042027602023
HP:0001252HP:0001252Hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13382027602023
HP:0001252HP:0001252Hypotonia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0001252HP:0001252Hypotonia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0001252HP:0001252Hypotonia0CNTNAP1 CL E G H85062680ORPHA11588011602346
HP:0001252HP:0001252Hypotonia0CNTNAP1 CL E G H85062680ORPHA12168011602346
HP:0001252HP:0001252Hypotonia0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM17318025614772
HP:0001252HP:0001252Hypotonia0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM17618025614772
HP:0001252HP:0001252Hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0001252HP:0001252Hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0001252HP:0001252Hypotonia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM11816545606973
HP:0001252HP:0001252Hypotonia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12486545606973
HP:0001252HP:0001252Hypotonia0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM131114857606821
HP:0001252HP:0001252Hypotonia0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM149014857606821
HP:0001252HP:0001252Hypotonia0COG7 CL E G H9194979333ORPHA121118622606978
HP:0001252HP:0001252Hypotonia0COG7 CL E G H9194979333ORPHA125418622606978
HP:0001252HP:0001252Hypotonia0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM115618623606979
HP:0001252HP:0001252Hypotonia0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM117718623606979
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12771899ORPHA113972197120150
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H12771899ORPHA116552197120150
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM113972197120150
HP:0001252HP:0001252Hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM116552197120150
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12781899ORPHA110422198120160
HP:0001252HP:0001252Hypotonia0COL1A2 CL E G H12781899ORPHA112032198120160
HP:0001252HP:0001252Hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM112132200120140
HP:0001252HP:0001252Hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM115402200120140
HP:0001252HP:0001252Hypotonia0COL4A1 CL E G H1282899ORPHA18372202120130
HP:0001252HP:0001252Hypotonia0COL4A1 CL E G H1282899ORPHA110102202120130
HP:0001252HP:0001252Hypotonia0COLQ CL E G H829298915ORPHA13642226603033
HP:0001252HP:0001252Hypotonia0COLQ CL E G H829298915ORPHA14182226603033
HP:0001252HP:0001252Hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0001252HP:0001252Hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0001252HP:0001252Hypotonia0COMT CL E G H1312567ORPHA15792228116790
HP:0001252HP:0001252Hypotonia0COMT CL E G H1312567ORPHA15872228116790
HP:0001252HP:0001252Hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM1672244601683
HP:0001252HP:0001252Hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11072244601683
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001252HP:0001252Hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001252HP:0001252Hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
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 H1355255241ORPHA12162263603646
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355255241ORPHA12332263603646
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001252HP:0001252Hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001252HP:0001252Hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0001252HP:0001252Hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0001252HP:0001252Hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
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 deficiency220110C0268237OMIM1182294123870
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA182425801614571
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1123925801614571
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM182425801614571
HP:0001252HP:0001252Hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1123925801614571
HP:0001252HP:0001252Hypotonia0CPS1 CL E G H1373147ORPHA18142323608307
HP:0001252HP:0001252Hypotonia0CPS1 CL E G H1373147ORPHA19102323608307
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374156ORPHA14522328600528
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374156ORPHA15032328600528
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001252HP:0001252Hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001252HP:0001252Hypotonia0CPT2 CL E G H1376228308ORPHA15052330600650
HP:0001252HP:0001252Hypotonia0CPT2 CL E G H1376228308ORPHA16182330600650
HP:0001252HP:0001252Hypotonia0CRB1 CL E G H2341865ORPHA18942343604210
HP:0001252HP:0001252Hypotonia0CRB1 CL E G H2341865ORPHA110852343604210
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001252HP:0001252Hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001252HP:0001252Hypotonia0CRX CL E G H140665ORPHA13612383602225
HP:0001252HP:0001252Hypotonia0CRX CL E G H140665ORPHA14192383602225
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA147626193611654
HP:0001252HP:0001252Hypotonia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA168726193611654
HP:0001252HP:0001252Hypotonia0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13042516604275
HP:0001252HP:0001252Hypotonia0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13082516604275
HP:0001252HP:0001252Hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001252HP:0001252Hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001252HP:0001252Hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001252HP:0001252Hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001252HP:0001252Hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM133128358609186
HP:0001252HP:0001252Hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM135728358609186
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H1605899ORPHA13762666128239
HP:0001252HP:0001252Hypotonia0DAG1 CL E G H1605899ORPHA14672666128239
HP:0001252HP:0001252Hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM14672698248610
HP:0001252HP:0001252Hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15112698248610
HP:0001252HP:0001252Hypotonia0DCX CL E G H16412148ORPHA13572714300121
HP:0001252HP:0001252Hypotonia0DCX CL E G H16412148ORPHA13682714300121
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0001252HP:0001252Hypotonia0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0001252HP:0001252Hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001252HP:0001252Hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001252HP:0001252Hypotonia0DHCR7 CL E G H1717818ORPHA15112860602858
HP:0001252HP:0001252Hypotonia0DHCR7 CL E G H1717818ORPHA15462860602858
HP:0001252HP:0001252Hypotonia0DIS3L2 CL E G H1295632849ORPHA1124928648614184
HP:0001252HP:0001252Hypotonia0DIS3L2 CL E G H1295632849ORPHA1150528648614184
HP:0001252HP:0001252Hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0001252HP:0001252Hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0001252HP:0001252Hypotonia0DMPK CL E G H1760273ORPHA12352933605377
HP:0001252HP:0001252Hypotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H179886309ORPHA11992995191350
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H179886309ORPHA12332995191350
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM11992995191350
HP:0001252HP:0001252Hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12332995191350
HP:0001252HP:0001252Hypotonia0DPF2 CL E G H59771465ORPHA1379964601671
HP:0001252HP:0001252Hypotonia0DPF2 CL E G H59771465ORPHA1459964601671
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H881379322ORPHA11563005603503
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H881379322ORPHA11883005603503
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0001252HP:0001252Hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0001252HP:0001252Hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001252HP:0001252Hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001252HP:0001252Hypotonia0DUOX2 CL E G H5050695716ORPHA143413273606759
HP:0001252HP:0001252Hypotonia0DUOX2 CL E G H5050695716ORPHA166813273606759
HP:0001252HP:0001252Hypotonia0DUOXA2 CL E G H40575395716ORPHA16932698612772
HP:0001252HP:0001252Hypotonia0DUOXA2 CL E G H40575395716ORPHA17032698612772
HP:0001252HP:0001252Hypotonia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM120232961600112
HP:0001252HP:0001252Hypotonia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM123852961600112
HP:0001252HP:0001252Hypotonia0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0001252HP:0001252Hypotonia0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0001252HP:0001252Hypotonia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12333180131244
HP:0001252HP:0001252Hypotonia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12583180131244
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H19471520ORPHA12013226300035
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H19471520ORPHA12103226300035
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12013226300035
HP:0001252HP:0001252Hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12103226300035
HP:0001252HP:0001252Hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0001252HP:0001252Hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981396147ORPHA1116424650607001
HP:0001252HP:0001252Hypotonia0EHMT1 CL E G H7981396147ORPHA1130124650607001
HP:0001252HP:0001252Hypotonia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0001252HP:0001252Hypotonia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0001252HP:0001252Hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11033257606686
HP:0001252HP:0001252Hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11223257606686
HP:0001252HP:0001252Hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11043258606454
HP:0001252HP:0001252Hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11203258606454
HP:0001252HP:0001252Hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM1973259606273
HP:0001252HP:0001252Hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11253259606273
HP:0001252HP:0001252Hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11033260606687
HP:0001252HP:0001252Hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11293260606687
HP:0001252HP:0001252Hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12833261603945
HP:0001252HP:0001252Hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM13353261603945
HP:0001252HP:0001252Hypotonia0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001252HP:0001252Hypotonia0EIF2S3 CL E G H196885282ORPHA11963267300161
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001252HP:0001252Hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H85181764ORPHA110545959603722
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H85181764ORPHA111815959603722
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0001252HP:0001252Hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0001252HP:0001252Hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001252HP:0001252Hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001252HP:0001252Hypotonia0EPCAM CL E G H4072144ORPHA136011529185535
HP:0001252HP:0001252Hypotonia0EPCAM CL E G H4072144ORPHA137411529185535
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0001252HP:0001252Hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0001252HP:0001252Hypotonia0ERCC1 CL E G H20671466ORPHA11063433126380
HP:0001252HP:0001252Hypotonia0ERCC1 CL E G H20671466ORPHA11103433126380
HP:0001252HP:0001252Hypotonia0ERCC2 CL E G H20681466ORPHA13603434126340
HP:0001252HP:0001252Hypotonia0ERCC2 CL E G H20681466ORPHA14793434126340
HP:0001252HP:0001252Hypotonia0ERCC5 CL E G H20731466ORPHA13613437133530
HP:0001252HP:0001252Hypotonia0ERCC5 CL E G H20731466ORPHA13743437133530
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H20741466ORPHA18253438609413
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H20741466ORPHA19463438609413
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001252HP:0001252Hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001252HP:0001252Hypotonia0ERF CL E G H20773267ORPHA11113444611888
HP:0001252HP:0001252Hypotonia0ERF CL E G H20773267ORPHA11203444611888
HP:0001252HP:0001252Hypotonia0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM12413481608053
HP:0001252HP:0001252Hypotonia0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM12753481608053
HP:0001252HP:0001252Hypotonia0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11393482130410
HP:0001252HP:0001252Hypotonia0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11693482130410
HP:0001252HP:0001252Hypotonia0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM14303483231675
HP:0001252HP:0001252Hypotonia0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM15203483231675
HP:0001252HP:0001252Hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM120423287608451
HP:0001252HP:0001252Hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM122623287608451
HP:0001252HP:0001252Hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0001252HP:0001252Hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0001252HP:0001252Hypotonia0FAN1 CL E G H22909144ORPHA135129170613534
HP:0001252HP:0001252Hypotonia0FAN1 CL E G H22909144ORPHA136129170613534
HP:0001252HP:0001252Hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM127029160612322
HP:0001252HP:0001252Hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM129429160612322
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H22002462ORPHA149683603134797
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H22002462ORPHA154573603134797
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H2200284979ORPHA149683603134797
HP:0001252HP:0001252Hypotonia0FBN1 CL E G H2200284979ORPHA154573603134797
HP:0001252HP:0001252Hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11703606611570
HP:0001252HP:0001252Hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11793606611570
HP:0001252HP:0001252Hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM15130546614585
HP:0001252HP:0001252Hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM16530546614585
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H22611860ORPHA15413690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H22611860ORPHA15423690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226193274ORPHA15413690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226193274ORPHA15423690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226115Antisocial personality disorderORPHA15413690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H226115Antisocial personality disorderORPHA15423690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM15413690134934
HP:0001252HP:0001252Hypotonia0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM15423690134934
HP:0001252HP:0001252Hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM111363700136850
HP:0001252HP:0001252Hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM112923700136850
HP:0001252HP:0001252Hypotonia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0001252HP:0001252Hypotonia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147588ORPHA157217997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147588ORPHA167117997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147899ORPHA157217997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147899ORPHA167117997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM157217997606596
HP:0001252HP:0001252Hypotonia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM167117997606596
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218588ORPHA15993622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218588ORPHA16793622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218899ORPHA15993622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218899ORPHA16793622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15993622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16793622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0001252HP:0001252Hypotonia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0001252HP:0001252Hypotonia0FLII CL E G H2314819ORPHA11553750600362
HP:0001252HP:0001252Hypotonia0FLII CL E G H2314819ORPHA11583750600362
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332908ORPHA13173775309550
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332908ORPHA13223775309550
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332261483ORPHA13173775309550
HP:0001252HP:0001252Hypotonia0FMR1 CL E G H2332261483ORPHA13223775309550
HP:0001252HP:0001252Hypotonia0FOXE1 CL E G H230495713ORPHA1693806602617
HP:0001252HP:0001252Hypotonia0FOXE1 CL E G H230495713ORPHA1703806602617
HP:0001252HP:0001252Hypotonia0FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0001252HP:0001252Hypotonia0FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0001252HP:0001252Hypotonia0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0001252HP:0001252Hypotonia0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0001252HP:0001252Hypotonia0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA11374006612280
HP:0001252HP:0001252Hypotonia0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA11884006612280
HP:0001252HP:0001252Hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM115924065606800
HP:0001252HP:0001252Hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM117844065606800
HP:0001252HP:0001252Hypotonia0GABRA1 CL E G H255433069ORPHA14184075137160
HP:0001252HP:0001252Hypotonia0GABRA1 CL E G H255433069ORPHA14584075137160
HP:0001252HP:0001252Hypotonia0GABRD CL E G H25631606ORPHA13404084137163
HP:0001252HP:0001252Hypotonia0GABRD CL E G H25631606ORPHA13614084137163
HP:0001252HP:0001252Hypotonia0GABRG2 CL E G H256633069ORPHA14254087137164
HP:0001252HP:0001252Hypotonia0GABRG2 CL E G H256633069ORPHA14804087137164
HP:0001252HP:0001252Hypotonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM17464115606890
HP:0001252HP:0001252Hypotonia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM18434115606890
HP:0001252HP:0001252Hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11324116606953
HP:0001252HP:0001252Hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11414116606953
HP:0001252HP:0001252Hypotonia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM12834170305371
HP:0001252HP:0001252Hypotonia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM13044170305371
HP:0001252HP:0001252Hypotonia0GBA CL E G H262985212ORPHA12614177606463
HP:0001252HP:0001252Hypotonia0GBA CL E G H262985212ORPHA12694177606463
HP:0001252HP:0001252Hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM14224180607839
HP:0001252HP:0001252Hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM15054180607839
HP:0001252HP:0001252Hypotonia0GCDH CL E G H263925ORPHA14684189608801
HP:0001252HP:0001252Hypotonia0GCDH CL E G H263925ORPHA15214189608801
HP:0001252HP:0001252Hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM14684189608801
HP:0001252HP:0001252Hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM15214189608801
HP:0001252HP:0001252Hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11514208238330
HP:0001252HP:0001252Hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11574208238330
HP:0001252HP:0001252Hypotonia0GDF6 CL E G H39225565ORPHA12124221601147
HP:0001252HP:0001252Hypotonia0GDF6 CL E G H39225565ORPHA12704221601147
HP:0001252HP:0001252Hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM112744313238300
HP:0001252HP:0001252Hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM115234313238300
HP:0001252HP:0001252Hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0001252HP:0001252Hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925588ORPHA120322932615320
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925588ORPHA123422932615320
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925363623ORPHA120322932615320
HP:0001252HP:0001252Hypotonia0GMPPB CL E G H29925363623ORPHA123422932615320
HP:0001252HP:0001252Hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0001252HP:0001252Hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0001252HP:0001252Hypotonia0GORAB CL E G H923442078ORPHA113025676607983
HP:0001252HP:0001252Hypotonia0GORAB CL E G H923442078ORPHA117425676607983
HP:0001252HP:0001252Hypotonia0GP1BB CL E G H2812567ORPHA14304440138720
HP:0001252HP:0001252Hypotonia0GP1BB CL E G H2812567ORPHA14384440138720
HP:0001252HP:0001252Hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001252HP:0001252Hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001252HP:0001252Hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001252HP:0001252Hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001252HP:0001252Hypotonia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0001252HP:0001252Hypotonia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0001252HP:0001252Hypotonia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0001252HP:0001252Hypotonia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0001252HP:0001252Hypotonia0GUCY2D CL E G H300065ORPHA15934689600179
HP:0001252HP:0001252Hypotonia0GUCY2D CL E G H300065ORPHA17314689600179
HP:0001252HP:0001252Hypotonia0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0001252HP:0001252Hypotonia0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0001252HP:0001252Hypotonia0HACD1 CL E G H92002020ORPHA1479639610467
HP:0001252HP:0001252Hypotonia0HACD1 CL E G H92002020ORPHA1859639610467
HP:0001252HP:0001252Hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM17621033610876
HP:0001252HP:0001252Hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM19121033610876
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM14774801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM15274801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM14774801600890
HP:0001252HP:0001252Hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM15274801600890
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12134803143450
HP:0001252HP:0001252Hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12424803143450
HP:0001252HP:0001252Hypotonia0HBA1 CL E G H303998791ORPHA13694823141800
HP:0001252HP:0001252Hypotonia0HBA1 CL E G H303998791ORPHA13754823141800
HP:0001252HP:0001252Hypotonia0HBA2 CL E G H304098791ORPHA13034824141850
HP:0001252HP:0001252Hypotonia0HBA2 CL E G H304098791ORPHA13204824141850
HP:0001252HP:0001252Hypotonia0HDAC4 CL E G H97591001Branchial arch defectsORPHA138514063605314
HP:0001252HP:0001252Hypotonia0HDAC4 CL E G H97591001Branchial arch defectsORPHA140714063605314
HP:0001252HP:0001252Hypotonia0HESX1 CL E G H8820226307ORPHA1634877601802
HP:0001252HP:0001252Hypotonia0HESX1 CL E G H8820226307ORPHA1744877601802
HP:0001252HP:0001252Hypotonia0HIBCH CL E G H2627588639ORPHA11374908610690
HP:0001252HP:0001252Hypotonia0HIBCH CL E G H2627588639ORPHA11534908610690
HP:0001252HP:0001252Hypotonia0HIRA CL E G H7290567ORPHA14374916600237
HP:0001252HP:0001252Hypotonia0HIRA CL E G H7290567ORPHA14424916600237
HP:0001252HP:0001252Hypotonia0HLCS CL E G H314179242ORPHA15814976609018
HP:0001252HP:0001252Hypotonia0HLCS CL E G H314179242ORPHA16234976609018
HP:0001252HP:0001252Hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM15814976609018
HP:0001252HP:0001252Hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM16234976609018
HP:0001252HP:0001252Hypotonia0HNRNPU CL E G H3192238769ORPHA14985048602869
HP:0001252HP:0001252Hypotonia0HNRNPU CL E G H3192238769ORPHA15715048602869
HP:0001252HP:0001252Hypotonia0HPD CL E G H32422118ORPHA11345147609695
HP:0001252HP:0001252Hypotonia0HPD CL E G H32422118ORPHA11475147609695
HP:0001252HP:0001252Hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13065157308000
HP:0001252HP:0001252Hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13205157308000
HP:0001252HP:0001252Hypotonia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0001252HP:0001252Hypotonia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0001252HP:0001252Hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0001252HP:0001252Hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0001252HP:0001252Hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11575261118190
HP:0001252HP:0001252Hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11815261118190
HP:0001252HP:0001252Hypotonia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA117726558610693
HP:0001252HP:0001252Hypotonia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA119926558610693
HP:0001252HP:0001252Hypotonia0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM11405383147650
HP:0001252HP:0001252Hypotonia0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM11625383147650
HP:0001252HP:0001252Hypotonia0IDUA CL E G H342593473ORPHA19715391252800
HP:0001252HP:0001252Hypotonia0IDUA CL E G H342593473ORPHA111145391252800
HP:0001252HP:0001252Hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0001252HP:0001252Hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0001252HP:0001252Hypotonia0IFT140 CL E G H974265ORPHA185129077614620
HP:0001252HP:0001252Hypotonia0IFT140 CL E G H974265ORPHA1109829077614620
HP:0001252HP:0001252Hypotonia0IMPDH1 CL E G H361465ORPHA12836052146690
HP:0001252HP:0001252Hypotonia0IMPDH1 CL E G H361465ORPHA13456052146690
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623220493ORPHA146621474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623220493ORPHA155921474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA146621474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA155921474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0001252HP:0001252Hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0001252HP:0001252Hypotonia0INPP5K CL E G H51763559ORPHA114533882607875
HP:0001252HP:0001252Hypotonia0INPP5K CL E G H51763559ORPHA115333882607875
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA11576080600829
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA12286080600829
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM11576080600829
HP:0001252HP:0001252Hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM12286080600829
HP:0001252HP:0001252Hypotonia0IQCB1 CL E G H965765ORPHA127628949609237
HP:0001252HP:0001252Hypotonia0IQCB1 CL E G H965765ORPHA135228949609237
HP:0001252HP:0001252Hypotonia0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0001252HP:0001252Hypotonia0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0001252HP:0001252Hypotonia0ISPD CL E G H729920899ORPHA154537276614631
HP:0001252HP:0001252Hypotonia0ISPD CL E G H729920899ORPHA154937276614631
HP:0001252HP:0001252Hypotonia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM11556139605025
HP:0001252HP:0001252Hypotonia0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM11686139605025
HP:0001252HP:0001252Hypotonia0ITGA7 CL E G H36792020ORPHA15236143600536
HP:0001252HP:0001252Hypotonia0ITGA7 CL E G H36792020ORPHA16286143600536
HP:0001252HP:0001252Hypotonia0ITGB6 CL E G H36942850ORPHA1906161147558
HP:0001252HP:0001252Hypotonia0ITGB6 CL E G H36942850ORPHA1926161147558
HP:0001252HP:0001252Hypotonia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18956180147265
HP:0001252HP:0001252Hypotonia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA19696180147265
HP:0001252HP:0001252Hypotonia0IYD CL E G H38943495716ORPHA16521071612025
HP:0001252HP:0001252Hypotonia0JMJD1C CL E G H221037567ORPHA181012313604503
HP:0001252HP:0001252Hypotonia0JMJD1C CL E G H221037567ORPHA189912313604503
HP:0001252HP:0001252Hypotonia0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM151019309607704
HP:0001252HP:0001252Hypotonia0KANK1 CL E G H23189612900Cerebral palsy, spastic quadriplegic, 2612900C2752061OMIM164719309607704
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522648ORPHA139617582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522648ORPHA148717582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H235223047ORPHA139617582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H235223047ORPHA148717582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM139617582605880
HP:0001252HP:0001252Hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM148717582605880
HP:0001252HP:0001252Hypotonia0KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0001252HP:0001252Hypotonia0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0001252HP:0001252Hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0001252HP:0001252Hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0001252HP:0001252Hypotonia0KCNE5 CL E G H2363086818ORPHA11916241300328
HP:0001252HP:0001252Hypotonia0KCNE5 CL E G H2363086818ORPHA12066241300328
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM11776250603305
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM12776250603305
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001252HP:0001252Hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001252HP:0001252Hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM12896256602208
HP:0001252HP:0001252Hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13196256602208
HP:0001252HP:0001252Hypotonia0KCNJ13 CL E G H376965ORPHA11466259603208
HP:0001252HP:0001252Hypotonia0KCNJ13 CL E G H376965ORPHA11746259603208
HP:0001252HP:0001252Hypotonia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM1816283605874
HP:0001252HP:0001252Hypotonia0KCNK9 CL E G H51305612292Birk Barel mental retardation dysmorphism syndrome612292C2676770OMIM1836283605874
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785439218ORPHA113806296602235
HP:0001252HP:0001252Hypotonia0KCNQ2 CL E G H3785439218ORPHA115346296602235
HP:0001252HP:0001252Hypotonia0KCNQ3 CL E G H3786306ORPHA18866297602232
HP:0001252HP:0001252Hypotonia0KCNQ3 CL E G H3786306ORPHA19776297602232
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H74032322ORPHA150212637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H74032322ORPHA156212637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM150212637300128
HP:0001252HP:0001252Hypotonia0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM156212637300128
HP:0001252HP:0001252Hypotonia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001252HP:0001252Hypotonia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA133819960610178
HP:0001252HP:0001252Hypotonia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA166219960610178
HP:0001252HP:0001252Hypotonia0KIF11 CL E G H38322526ORPHA14056388148760
HP:0001252HP:0001252Hypotonia0KIF11 CL E G H38322526ORPHA14986388148760
HP:0001252HP:0001252Hypotonia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11441888601255
HP:0001252HP:0001252Hypotonia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM11735888601255
HP:0001252HP:0001252Hypotonia0KIF1BP CL E G H2612866629ORPHA123419609367
HP:0001252HP:0001252Hypotonia0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM13196391603213
HP:0001252HP:0001252Hypotonia0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM13686391603213
HP:0001252HP:0001252Hypotonia0KMT2A CL E G H4297319182ORPHA16737132159555
HP:0001252HP:0001252Hypotonia0KMT2A CL E G H4297319182ORPHA19747132159555
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H80852322ORPHA118287133602113
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H80852322ORPHA123717133602113
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0001252HP:0001252Hypotonia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845144ORPHA13316407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845144ORPHA13416407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845648ORPHA13316407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H3845648ORPHA13416407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38453339ORPHA13316407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38453339ORPHA13416407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13316407190070
HP:0001252HP:0001252Hypotonia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13416407190070
HP:0001252HP:0001252Hypotonia0L2HGDH CL E G H7994479314ORPHA112420499609584
HP:0001252HP:0001252Hypotonia0L2HGDH CL E G H7994479314ORPHA116020499609584
HP:0001252HP:0001252Hypotonia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0001252HP:0001252Hypotonia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H391398915ORPHA14706487150325
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H391398915ORPHA16006487150325
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM14706487150325
HP:0001252HP:0001252Hypotonia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM16006487150325
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215588ORPHA15166511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215588ORPHA15976511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215899ORPHA15166511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215899ORPHA15976511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15166511603590
HP:0001252HP:0001252Hypotonia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15976511603590
HP:0001252HP:0001252Hypotonia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM121125726300964
HP:0001252HP:0001252Hypotonia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM122025726300964
HP:0001252HP:0001252Hypotonia0LCA5 CL E G H16769165ORPHA137431923611408
HP:0001252HP:0001252Hypotonia0LCA5 CL E G H16769165ORPHA145831923611408
HP:0001252HP:0001252Hypotonia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA11886556604407
HP:0001252HP:0001252Hypotonia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12286556604407
HP:0001252HP:0001252Hypotonia0LGI4 CL E G H1631752680ORPHA17418712608303
HP:0001252HP:0001252Hypotonia0LGI4 CL E G H1631752680ORPHA17918712608303
HP:0001252HP:0001252Hypotonia0LHX3 CL E G H8022226307ORPHA12826595600577
HP:0001252HP:0001252Hypotonia0LHX3 CL E G H8022226307ORPHA13006595600577
HP:0001252HP:0001252Hypotonia0LHX4 CL E G H89884226307ORPHA113121734602146
HP:0001252HP:0001252Hypotonia0LHX4 CL E G H89884226307ORPHA113521734602146
HP:0001252HP:0001252Hypotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0001252HP:0001252Hypotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0001252HP:0001252Hypotonia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0001252HP:0001252Hypotonia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0001252HP:0001252Hypotonia0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0001252HP:0001252Hypotonia0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H5578879284ORPHA115723038612625
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H5578879284ORPHA119323038612625
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM115723038612625
HP:0001252HP:0001252Hypotonia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM119323038612625
HP:0001252HP:0001252Hypotonia0LMNA CL E G H4000157973ORPHA113476636150330
HP:0001252HP:0001252Hypotonia0LMNA CL E G H4000157973ORPHA114866636150330
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H93611458ORPHA12219479605490
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H93611458ORPHA13579479605490
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM12219479605490
HP:0001252HP:0001252Hypotonia0LONP1 CL E G H9361600373CODAS syndrome600373C1838180OMIM13579479605490
HP:0001252HP:0001252Hypotonia0LRAT CL E G H922765ORPHA11826685604863
HP:0001252HP:0001252Hypotonia0LRAT CL E G H922765ORPHA12056685604863
HP:0001252HP:0001252Hypotonia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0001252HP:0001252Hypotonia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770