Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Hypotonia (HP:0001252)help
..Starting node
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Generalized hypotonia (HP:0001290)help
Term ID: 1290
Name: Generalized hypotonia
Synonym: Generalised decreased muscle tone; Generalised hypotonia; Generalised muscular hypotonia; Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalised; Hypotonia, generalized
Definition: Generalized muscular hypotonia (abnormally low muscle tone).
Comments:
Reference: HP:0001290
Genes and Diseases:
 
       Child Nodes:
........expandGeneralized hypotonia due to defect at the neuromuscular junction (HP:0003397) help
........expandEpisodic generalized hypotonia (HP:0006852) help

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandFacial hypotonia (HP:0000297) help
..expandFrog-leg posture (HP:0031139) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandMuscular hypotonia of the trunk (HP:0008936) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001290HP:0001290Generalized hypotonia0AARS CL E G H16442835ORPHA120601065
HP:0001290HP:0001290Generalized hypotonia0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001290HP:0001290Generalized hypotonia0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM125968603214
HP:0001290HP:0001290Generalized hypotonia0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM128568603214
HP:0001290HP:0001290Generalized hypotonia0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM114184200350
HP:0001290HP:0001290Generalized hypotonia0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM115384200350
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001290HP:0001290Generalized hypotonia0ACADL CL E G H3399900ORPHA13388609576
HP:0001290HP:0001290Generalized hypotonia0ACADL CL E G H3399900ORPHA13588609576
HP:0001290HP:0001290Generalized hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0001290HP:0001290Generalized hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0001290HP:0001290Generalized hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM126290606885
HP:0001290HP:0001290Generalized hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM129490606885
HP:0001290HP:0001290Generalized hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM127591600301
HP:0001290HP:0001290Generalized hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM129091600301
HP:0001290HP:0001290Generalized hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0001290HP:0001290Generalized hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0001290HP:0001290Generalized hypotonia0ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0001290HP:0001290Generalized hypotonia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001290HP:0001290Generalized hypotonia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001290HP:0001290Generalized hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM125123171650
HP:0001290HP:0001290Generalized hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM127123171650
HP:0001290HP:0001290Generalized hypotonia0ACTA1 CL E G H5897244ORPHA1325129102610
HP:0001290HP:0001290Generalized hypotonia0ACTA1 CL E G H5897244ORPHA1362129102610
HP:0001290HP:0001290Generalized hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0001290HP:0001290Generalized hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0001290HP:0001290Generalized hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001290HP:0001290Generalized hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001290HP:0001290Generalized hypotonia0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM17625151615302
HP:0001290HP:0001290Generalized hypotonia0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM18525151615302
HP:0001290HP:0001290Generalized hypotonia0ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM168237600294
HP:0001290HP:0001290Generalized hypotonia0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM173257102750
HP:0001290HP:0001290Generalized hypotonia0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM179257102750
HP:0001290HP:0001290Generalized hypotonia0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0001290HP:0001290Generalized hypotonia0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA1368291608222
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA1582291608222
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001290HP:0001290Generalized hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0001290HP:0001290Generalized hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0001290HP:0001290Generalized hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0001290HP:0001290Generalized hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0001290HP:0001290Generalized hypotonia0AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001290HP:0001290Generalized hypotonia0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM131225230615790
HP:0001290HP:0001290Generalized hypotonia0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM137325230615790
HP:0001290HP:0001290Generalized hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0001290HP:0001290Generalized hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H9131238329ORPHA14138768300169
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H9131238329ORPHA14508768300169
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13469722138250
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13929722138250
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0001290HP:0001290Generalized hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0001290HP:0001290Generalized hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0001290HP:0001290Generalized hypotonia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001290HP:0001290Generalized hypotonia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0001290HP:0001290Generalized hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1619877107323
HP:0001290HP:0001290Generalized hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1696877107323
HP:0001290HP:0001290Generalized hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001290HP:0001290Generalized hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001290HP:0001290Generalized hypotonia0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM130219358607144
HP:0001290HP:0001290Generalized hypotonia0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM139019358607144
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H79868324422ORPHA163330881300776
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H79868324422ORPHA171030881300776
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM163330881300776
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM171030881300776
HP:0001290HP:0001290Generalized hypotonia0ALG14 CL E G H199857353327ORPHA17628287612866
HP:0001290HP:0001290Generalized hypotonia0ALG14 CL E G H199857353327ORPHA19728287612866
HP:0001290HP:0001290Generalized hypotonia0ALG2 CL E G H85365353327ORPHA119323159607905
HP:0001290HP:0001290Generalized hypotonia0ALG2 CL E G H85365353327ORPHA124123159607905
HP:0001290HP:0001290Generalized hypotonia0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM119323161608103
HP:0001290HP:0001290Generalized hypotonia0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM120923161608103
HP:0001290HP:0001290Generalized hypotonia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001290HP:0001290Generalized hypotonia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001290HP:0001290Generalized hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1575438171760
HP:0001290HP:0001290Generalized hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1671438171760
HP:0001290HP:0001290Generalized hypotonia0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0001290HP:0001290Generalized hypotonia0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0001290HP:0001290Generalized hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001290HP:0001290Generalized hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001290HP:0001290Generalized hypotonia0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1364494600465
HP:0001290HP:0001290Generalized hypotonia0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM1505494600465
HP:0001290HP:0001290Generalized hypotonia0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM153559603531
HP:0001290HP:0001290Generalized hypotonia0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM155559603531
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H890585329ORPHA1216560300629
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H890585329ORPHA1219560300629
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1117567602166
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1288567602166
HP:0001290HP:0001290Generalized hypotonia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0001290HP:0001290Generalized hypotonia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0001290HP:0001290Generalized hypotonia0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0001290HP:0001290Generalized hypotonia0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0001290HP:0001290Generalized hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0001290HP:0001290Generalized hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0001290HP:0001290Generalized hypotonia0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM142615853605371
HP:0001290HP:0001290Generalized hypotonia0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM145915853605371
HP:0001290HP:0001290Generalized hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001290HP:0001290Generalized hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001290HP:0001290Generalized hypotonia0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001290HP:0001290Generalized hypotonia0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001290HP:0001290Generalized hypotonia0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0001290HP:0001290Generalized hypotonia0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0001290HP:0001290Generalized hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM118425419608922
HP:0001290HP:0001290Generalized hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM122225419608922
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309256ORPHA1732713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309256ORPHA1841713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309263ORPHA1732713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309263ORPHA1841713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309271ORPHA1732713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309271ORPHA1841713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16229561611647
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16529561611647
HP:0001290HP:0001290Generalized hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM156518060300382
HP:0001290HP:0001290Generalized hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM162418060300382
HP:0001290HP:0001290Generalized hypotonia0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM16324268614215
HP:0001290HP:0001290Generalized hypotonia0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM18224268614215
HP:0001290HP:0001290Generalized hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0001290HP:0001290Generalized hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0001290HP:0001290Generalized hypotonia0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0001290HP:0001290Generalized hypotonia0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0001290HP:0001290Generalized hypotonia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0001290HP:0001290Generalized hypotonia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H8530094122ORPHA1175779608179
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H8530094122ORPHA1179779608179
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0001290HP:0001290Generalized hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM167794601731
HP:0001290HP:0001290Generalized hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM172794601731
HP:0001290HP:0001290Generalized hypotonia0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001290HP:0001290Generalized hypotonia0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001290HP:0001290Generalized hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0001290HP:0001290Generalized hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0001290HP:0001290Generalized hypotonia0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0001290HP:0001290Generalized hypotonia0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0001290HP:0001290Generalized hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0001290HP:0001290Generalized hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0001290HP:0001290Generalized hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0001290HP:0001290Generalized hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15010555601517
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15210555601517
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM128117978615291
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM133717978615291
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001290HP:0001290Generalized hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0001290HP:0001290Generalized hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0001290HP:0001290Generalized hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1175930604327
HP:0001290HP:0001290Generalized hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1237930604327
HP:0001290HP:0001290Generalized hypotonia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM119624123614144
HP:0001290HP:0001290Generalized hypotonia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM123024123614144
HP:0001290HP:0001290Generalized hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0001290HP:0001290Generalized hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0001290HP:0001290Generalized hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0001290HP:0001290Generalized hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0001290HP:0001290Generalized hypotonia0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM111813222606558
HP:0001290HP:0001290Generalized hypotonia0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM119713222606558
HP:0001290HP:0001290Generalized hypotonia0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0001290HP:0001290Generalized hypotonia0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H274169186ORPHA14311052601248
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H274169186ORPHA14871052601248
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H274169189ORPHA14311052601248
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H274169189ORPHA14871052601248
HP:0001290HP:0001290Generalized hypotonia0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM117424154608699
HP:0001290HP:0001290Generalized hypotonia0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM120624154608699
HP:0001290HP:0001290Generalized hypotonia0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM16424415613183
HP:0001290HP:0001290Generalized hypotonia0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17024415613183
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16181097164757
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16801097164757
HP:0001290HP:0001290Generalized hypotonia0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM116014255602410
HP:0001290HP:0001290Generalized hypotonia0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM117314255602410
HP:0001290HP:0001290Generalized hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM145217342300553
HP:0001290HP:0001290Generalized hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM147217342300553
HP:0001290HP:0001290Generalized hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM119816512606412
HP:0001290HP:0001290Generalized hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM120916512606412
HP:0001290HP:0001290Generalized hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0001290HP:0001290Generalized hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0001290HP:0001290Generalized hypotonia0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0001290HP:0001290Generalized hypotonia0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0001290HP:0001290Generalized hypotonia0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM1771184616082
HP:0001290HP:0001290Generalized hypotonia0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM1801184616082
HP:0001290HP:0001290Generalized hypotonia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM119929521615140
HP:0001290HP:0001290Generalized hypotonia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM120829521615140
HP:0001290HP:0001290Generalized hypotonia0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001290HP:0001290Generalized hypotonia0C19orf12 CL E G H83636320370ORPHA124025443614297
HP:0001290HP:0001290Generalized hypotonia0C19orf12 CL E G H83636320370ORPHA124825443614297
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001290HP:0001290Generalized hypotonia0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001290HP:0001290Generalized hypotonia0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001290HP:0001290Generalized hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0001290HP:0001290Generalized hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0001290HP:0001290Generalized hypotonia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM15831497300172
HP:0001290HP:0001290Generalized hypotonia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM16331497300172
HP:0001290HP:0001290Generalized hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0001290HP:0001290Generalized hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0001290HP:0001290Generalized hypotonia0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM17061541165360
HP:0001290HP:0001290Generalized hypotonia0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM18581541165360
HP:0001290HP:0001290Generalized hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001290HP:0001290Generalized hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001290HP:0001290Generalized hypotonia0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM124228909300859
HP:0001290HP:0001290Generalized hypotonia0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM125028909300859
HP:0001290HP:0001290Generalized hypotonia0CCDC47 CL E G H57003618268618268618268OMIM123248560
HP:0001290HP:0001290Generalized hypotonia0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM132914153614666
HP:0001290HP:0001290Generalized hypotonia0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM139214153614666
HP:0001290HP:0001290Generalized hypotonia0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1461689107271
HP:0001290HP:0001290Generalized hypotonia0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1561689107271
HP:0001290HP:0001290Generalized hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0001290HP:0001290Generalized hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0001290HP:0001290Generalized hypotonia0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM1441736116952
HP:0001290HP:0001290Generalized hypotonia0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM1481736116952
HP:0001290HP:0001290Generalized hypotonia0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0001290HP:0001290Generalized hypotonia0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0001290HP:0001290Generalized hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0001290HP:0001290Generalized hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0001290HP:0001290Generalized hypotonia0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM121026690613446
HP:0001290HP:0001290Generalized hypotonia0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM125026690613446
HP:0001290HP:0001290Generalized hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1153529021610142
HP:0001290HP:0001290Generalized hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1190229021610142
HP:0001290HP:0001290Generalized hypotonia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM129712370610523
HP:0001290HP:0001290Generalized hypotonia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM134712370610523
HP:0001290HP:0001290Generalized hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11281875601443
HP:0001290HP:0001290Generalized hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11391875601443
HP:0001290HP:0001290Generalized hypotonia0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0001290HP:0001290Generalized hypotonia0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0001290HP:0001290Generalized hypotonia0CHD1 CL E G H1105529965ORPHA1671915602118
HP:0001290HP:0001290Generalized hypotonia0CHD1 CL E G H1105529965ORPHA1741915602118
HP:0001290HP:0001290Generalized hypotonia0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM11901919603277
HP:0001290HP:0001290Generalized hypotonia0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM12171919603277
HP:0001290HP:0001290Generalized hypotonia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0001290HP:0001290Generalized hypotonia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0001290HP:0001290Generalized hypotonia0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM13311965100720
HP:0001290HP:0001290Generalized hypotonia0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM13731965100720
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM15991966100725
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM16731966100725
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0001290HP:0001290Generalized hypotonia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0001290HP:0001290Generalized hypotonia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0001290HP:0001290Generalized hypotonia0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM14792022302910
HP:0001290HP:0001290Generalized hypotonia0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM15122022302910
HP:0001290HP:0001290Generalized hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11862026602024
HP:0001290HP:0001290Generalized hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11872026602024
HP:0001290HP:0001290Generalized hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13042027602023
HP:0001290HP:0001290Generalized hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13382027602023
HP:0001290HP:0001290Generalized hypotonia0CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001290HP:0001290Generalized hypotonia0CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001290HP:0001290Generalized hypotonia0CLTC CL E G H1213442835ORPHA11022092118955
HP:0001290HP:0001290Generalized hypotonia0CLTC CL E G H1213442835ORPHA12022092118955
HP:0001290HP:0001290Generalized hypotonia0CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001290HP:0001290Generalized hypotonia0CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001290HP:0001290Generalized hypotonia0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM11588011602346
HP:0001290HP:0001290Generalized hypotonia0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12168011602346
HP:0001290HP:0001290Generalized hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0001290HP:0001290Generalized hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0001290HP:0001290Generalized hypotonia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0001290HP:0001290Generalized hypotonia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0001290HP:0001290Generalized hypotonia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0001290HP:0001290Generalized hypotonia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H130375840ORPHA113672188120320
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H130375840ORPHA116782188120320
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM113672188120320
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM116782188120320
HP:0001290HP:0001290Generalized hypotonia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM11792190120350
HP:0001290HP:0001290Generalized hypotonia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM12942190120350
HP:0001290HP:0001290Generalized hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM113972197120150
HP:0001290HP:0001290Generalized hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM116552197120150
HP:0001290HP:0001290Generalized hypotonia0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM110422198120160
HP:0001290HP:0001290Generalized hypotonia0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM112032198120160
HP:0001290HP:0001290Generalized hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM112132200120140
HP:0001290HP:0001290Generalized hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM115402200120140
HP:0001290HP:0001290Generalized hypotonia0COL6A1 CL E G H129175840ORPHA112192211120220
HP:0001290HP:0001290Generalized hypotonia0COL6A1 CL E G H129175840ORPHA113422211120220
HP:0001290HP:0001290Generalized hypotonia0COL6A2 CL E G H129275840ORPHA113702212120240
HP:0001290HP:0001290Generalized hypotonia0COL6A2 CL E G H129275840ORPHA115122212120240
HP:0001290HP:0001290Generalized hypotonia0COL6A3 CL E G H129375840ORPHA119712213120250
HP:0001290HP:0001290Generalized hypotonia0COL6A3 CL E G H129375840ORPHA122332213120250
HP:0001290HP:0001290Generalized hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0001290HP:0001290Generalized hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0001290HP:0001290Generalized hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM1672244601683
HP:0001290HP:0001290Generalized hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11072244601683
HP:0001290HP:0001290Generalized hypotonia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0001290HP:0001290Generalized hypotonia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0001290HP:0001290Generalized hypotonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM112725302612837
HP:0001290HP:0001290Generalized hypotonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM116425302612837
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001290HP:0001290Generalized hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0001290HP:0001290Generalized hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12162263603646
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12332263603646
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001290HP:0001290Generalized hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0001290HP:0001290Generalized hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0001290HP:0001290Generalized hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0001290HP:0001290Generalized hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0001290HP:0001290Generalized hypotonia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H652502754ORPHA182425801614571
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H652502754ORPHA1123925801614571
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM182425801614571
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1123925801614571
HP:0001290HP:0001290Generalized hypotonia0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0001290HP:0001290Generalized hypotonia0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0001290HP:0001290Generalized hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001290HP:0001290Generalized hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001290HP:0001290Generalized hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001290HP:0001290Generalized hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001290HP:0001290Generalized hypotonia0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0001290HP:0001290Generalized hypotonia0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H79848397715ORPHA147626193611654
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H79848397715ORPHA168726193611654
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM147626193611654
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM168726193611654
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0001290HP:0001290Generalized hypotonia0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM119013723604167
HP:0001290HP:0001290Generalized hypotonia0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM120113723604167
HP:0001290HP:0001290Generalized hypotonia0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM12692514116806
HP:0001290HP:0001290Generalized hypotonia0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM13642514116806
HP:0001290HP:0001290Generalized hypotonia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM112828005617057
HP:0001290HP:0001290Generalized hypotonia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM114228005617057
HP:0001290HP:0001290Generalized hypotonia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13102555300304
HP:0001290HP:0001290Generalized hypotonia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13222555300304
HP:0001290HP:0001290Generalized hypotonia0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM15925613616120
HP:0001290HP:0001290Generalized hypotonia0CYFIP2 CL E G H26999442835ORPHA18413760606323
HP:0001290HP:0001290Generalized hypotonia0CYFIP2 CL E G H26999442835ORPHA117513760606323
HP:0001290HP:0001290Generalized hypotonia0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM12012602126065
HP:0001290HP:0001290Generalized hypotonia0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM12202602126065
HP:0001290HP:0001290Generalized hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0001290HP:0001290Generalized hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0001290HP:0001290Generalized hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0001290HP:0001290Generalized hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0001290HP:0001290Generalized hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM133128358609186
HP:0001290HP:0001290Generalized hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM135728358609186
HP:0001290HP:0001290Generalized hypotonia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0001290HP:0001290Generalized hypotonia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0001290HP:0001290Generalized hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM14672698248610
HP:0001290HP:0001290Generalized hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15112698248610
HP:0001290HP:0001290Generalized hypotonia0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0001290HP:0001290Generalized hypotonia0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0001290HP:0001290Generalized hypotonia0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0001290HP:0001290Generalized hypotonia0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H1650300536ORPHA11542728602202
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H1650300536ORPHA11792728602202
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11542728602202
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM11792728602202
HP:0001290HP:0001290Generalized hypotonia0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM11902731191311
HP:0001290HP:0001290Generalized hypotonia0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12252731191311
HP:0001290HP:0001290Generalized hypotonia0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11232736601150
HP:0001290HP:0001290Generalized hypotonia0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11262736601150
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H1654457260ORPHA14612745300160
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H1654457260ORPHA14962745300160
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM14612745300160
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM14962745300160
HP:0001290HP:0001290Generalized hypotonia0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM117914677602635
HP:0001290HP:0001290Generalized hypotonia0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM131114677602635
HP:0001290HP:0001290Generalized hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001290HP:0001290Generalized hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001290HP:0001290Generalized hypotonia0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0001290HP:0001290Generalized hypotonia0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0001290HP:0001290Generalized hypotonia0DHDDS CL E G H79947442835ORPHA119920603608172
HP:0001290HP:0001290Generalized hypotonia0DHDDS CL E G H79947442835ORPHA125620603608172
HP:0001290HP:0001290Generalized hypotonia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM12772861126060
HP:0001290HP:0001290Generalized hypotonia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM13432861126060
HP:0001290HP:0001290Generalized hypotonia0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM121823537614984
HP:0001290HP:0001290Generalized hypotonia0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM133723537614984
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA13292898238331
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA13552898238331
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13292898238331
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13552898238331
HP:0001290HP:0001290Generalized hypotonia0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12412902300189
HP:0001290HP:0001290Generalized hypotonia0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM12512902300189
HP:0001290HP:0001290Generalized hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0001290HP:0001290Generalized hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0001290HP:0001290Generalized hypotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0001290HP:0001290Generalized hypotonia0DNA2 CL E G H1763352470ORPHA12232939601810
HP:0001290HP:0001290Generalized hypotonia0DNA2 CL E G H1763352470ORPHA12902939601810
HP:0001290HP:0001290Generalized hypotonia0DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0001290HP:0001290Generalized hypotonia0DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H1759442835ORPHA14592972602377
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H1759442835ORPHA15062972602377
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0001290HP:0001290Generalized hypotonia0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM12632973603850
HP:0001290HP:0001290Generalized hypotonia0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM13322973603850
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H1785169189ORPHA16752974602378
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H1785169189ORPHA17662974602378
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM16752974602378
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM17662974602378
HP:0001290HP:0001290Generalized hypotonia0DNMT3A CL E G H1788615879Tatton-Brown-rahman syndrome615879C4014545OMIM12802978602769
HP:0001290HP:0001290Generalized hypotonia0DNMT3A CL E G H1788615879Tatton-Brown-rahman syndrome615879C4014545OMIM13052978602769
HP:0001290HP:0001290Generalized hypotonia0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001290HP:0001290Generalized hypotonia0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798353327ORPHA11992995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798353327ORPHA12332995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM11992995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12332995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0001290HP:0001290Generalized hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0001290HP:0001290Generalized hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0001290HP:0001290Generalized hypotonia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0001290HP:0001290Generalized hypotonia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0001290HP:0001290Generalized hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0001290HP:0001290Generalized hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0001290HP:0001290Generalized hypotonia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119419087607407
HP:0001290HP:0001290Generalized hypotonia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM119819087607407
HP:0001290HP:0001290Generalized hypotonia0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12653133300205
HP:0001290HP:0001290Generalized hypotonia0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12863133300205
HP:0001290HP:0001290Generalized hypotonia0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM12413151602292
HP:0001290HP:0001290Generalized hypotonia0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM13013151602292
HP:0001290HP:0001290Generalized hypotonia0EEF1A2 CL E G H1917442835ORPHA13823192602959
HP:0001290HP:0001290Generalized hypotonia0EEF1A2 CL E G H1917442835ORPHA14173192602959
HP:0001290HP:0001290Generalized hypotonia0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM12533219604633
HP:0001290HP:0001290Generalized hypotonia0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM12723219604633
HP:0001290HP:0001290Generalized hypotonia0EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0001290HP:0001290Generalized hypotonia0EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0001290HP:0001290Generalized hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12013226300035
HP:0001290HP:0001290Generalized hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12103226300035
HP:0001290HP:0001290Generalized hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0001290HP:0001290Generalized hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0001290HP:0001290Generalized hypotonia0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1116424650607001
HP:0001290HP:0001290Generalized hypotonia0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM1130124650607001
HP:0001290HP:0001290Generalized hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11033257606686
HP:0001290HP:0001290Generalized hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11223257606686
HP:0001290HP:0001290Generalized hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11043258606454
HP:0001290HP:0001290Generalized hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11203258606454
HP:0001290HP:0001290Generalized hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM1973259606273
HP:0001290HP:0001290Generalized hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11253259606273
HP:0001290HP:0001290Generalized hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11033260606687
HP:0001290HP:0001290Generalized hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11293260606687
HP:0001290HP:0001290Generalized hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM12833261603945
HP:0001290HP:0001290Generalized hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM13353261603945
HP:0001290HP:0001290Generalized hypotonia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0001290HP:0001290Generalized hypotonia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0001290HP:0001290Generalized hypotonia0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM135414198605367
HP:0001290HP:0001290Generalized hypotonia0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM154114198605367
HP:0001290HP:0001290Generalized hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001290HP:0001290Generalized hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001290HP:0001290Generalized hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM110545959603722
HP:0001290HP:0001290Generalized hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM111815959603722
HP:0001290HP:0001290Generalized hypotonia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM129428957616846
HP:0001290HP:0001290Generalized hypotonia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM152528957616846
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0001290HP:0001290Generalized hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0001290HP:0001290Generalized hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0001290HP:0001290Generalized hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0001290HP:0001290Generalized hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H2347451188ORPHA120423287608451
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H2347451188ORPHA122623287608451
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM120423287608451
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM122623287608451
HP:0001290HP:0001290Generalized hypotonia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM116117944606489
HP:0001290HP:0001290Generalized hypotonia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM117517944606489
HP:0001290HP:0001290Generalized hypotonia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0001290HP:0001290Generalized hypotonia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0001290HP:0001290Generalized hypotonia0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM13793513608210
HP:0001290HP:0001290Generalized hypotonia0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM14663513608210
HP:0001290HP:0001290Generalized hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0001290HP:0001290Generalized hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0001290HP:0001290Generalized hypotonia0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM16626222616107
HP:0001290HP:0001290Generalized hypotonia0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM112626222616107
HP:0001290HP:0001290Generalized hypotonia0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM136121062611592
HP:0001290HP:0001290Generalized hypotonia0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM142921062611592
HP:0001290HP:0001290Generalized hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM127029160612322
HP:0001290HP:0001290Generalized hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM129429160612322
HP:0001290HP:0001290Generalized hypotonia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM151923109612411
HP:0001290HP:0001290Generalized hypotonia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM198923109612411
HP:0001290HP:0001290Generalized hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11703606611570
HP:0001290HP:0001290Generalized hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11793606611570
HP:0001290HP:0001290Generalized hypotonia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM145813601605654
HP:0001290HP:0001290Generalized hypotonia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM147413601605654
HP:0001290HP:0001290Generalized hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM15130546614585
HP:0001290HP:0001290Generalized hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM16530546614585
HP:0001290HP:0001290Generalized hypotonia0FGF12 CL E G H2257442835ORPHA11273668601513
HP:0001290HP:0001290Generalized hypotonia0FGF12 CL E G H2257442835ORPHA11633668601513
HP:0001290HP:0001290Generalized hypotonia0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0001290HP:0001290Generalized hypotonia0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0001290HP:0001290Generalized hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM111363700136850
HP:0001290HP:0001290Generalized hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM112923700136850
HP:0001290HP:0001290Generalized hypotonia0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0001290HP:0001290Generalized hypotonia0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H7914734515ORPHA157217997606596
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H7914734515ORPHA167117997606596
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H79147370980ORPHA157217997606596
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H79147370980ORPHA167117997606596
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218370980ORPHA15993622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218370980ORPHA16793622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0001290HP:0001290Generalized hypotonia0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0001290HP:0001290Generalized hypotonia0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0001290HP:0001290Generalized hypotonia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0001290HP:0001290Generalized hypotonia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0001290HP:0001290Generalized hypotonia0FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0001290HP:0001290Generalized hypotonia0FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0001290HP:0001290Generalized hypotonia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0001290HP:0001290Generalized hypotonia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0001290HP:0001290Generalized hypotonia0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0001290HP:0001290Generalized hypotonia0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0001290HP:0001290Generalized hypotonia0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM12571362604574
HP:0001290HP:0001290Generalized hypotonia0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM13061362604574
HP:0001290HP:0001290Generalized hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM115924065606800
HP:0001290HP:0001290Generalized hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM117844065606800
HP:0001290HP:0001290Generalized hypotonia0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM1494081137190
HP:0001290HP:0001290Generalized hypotonia0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM1964081137190
HP:0001290HP:0001290Generalized hypotonia0GABRB2 CL E G H2561442835ORPHA13214082600232
HP:0001290HP:0001290Generalized hypotonia0GABRB2 CL E G H2561442835ORPHA13584082600232
HP:0001290HP:0001290Generalized hypotonia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16454083137192
HP:0001290HP:0001290Generalized hypotonia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16914083137192
HP:0001290HP:0001290Generalized hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11324116606953
HP:0001290HP:0001290Generalized hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11414116606953
HP:0001290HP:0001290Generalized hypotonia0GAN CL E G H8139643ORPHA15334137605379
HP:0001290HP:0001290Generalized hypotonia0GAN CL E G H8139643ORPHA15944137605379
HP:0001290HP:0001290Generalized hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM14224180607839
HP:0001290HP:0001290Generalized hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM15054180607839
HP:0001290HP:0001290Generalized hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM14684189608801
HP:0001290HP:0001290Generalized hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM15214189608801
HP:0001290HP:0001290Generalized hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11514208238330
HP:0001290HP:0001290Generalized hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11574208238330
HP:0001290HP:0001290Generalized hypotonia0GDI1 CL E G H2664300849X-Linked Mental Retardation 41300849C3887939OMIM12624226300104
HP:0001290HP:0001290Generalized hypotonia0GDI1 CL E G H2664300849X-Linked Mental Retardation 41300849C3887939OMIM12714226300104
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H2673353327ORPHA13744241138292
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H2673353327ORPHA14064241138292
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0001290HP:0001290Generalized hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM112744313238300
HP:0001290HP:0001290Generalized hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM115234313238300
HP:0001290HP:0001290Generalized hypotonia0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM11924341138290
HP:0001290HP:0001290Generalized hypotonia0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12074341138290
HP:0001290HP:0001290Generalized hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0001290HP:0001290Generalized hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925353327ORPHA120322932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925353327ORPHA123422932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H2782488613ORPHA12174396139380
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H2782488613ORPHA12504396139380
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM12174396139380
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM12504396139380
HP:0001290HP:0001290Generalized hypotonia0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11304401604447
HP:0001290HP:0001290Generalized hypotonia0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11334401604447
HP:0001290HP:0001290Generalized hypotonia0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0001290HP:0001290Generalized hypotonia0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0001290HP:0001290Generalized hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0001290HP:0001290Generalized hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0001290HP:0001290Generalized hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001290HP:0001290Generalized hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001290HP:0001290Generalized hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001290HP:0001290Generalized hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001290HP:0001290Generalized hypotonia0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17418062138210
HP:0001290HP:0001290Generalized hypotonia0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17618062138210
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H287993317ORPHA1784556138322
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H287993317ORPHA11114556138322
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM1784556138322
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM11114556138322
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H2895363432ORPHA11444576602368
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H2895363432ORPHA11514576602368
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0001290HP:0001290Generalized hypotonia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM18934586138252
HP:0001290HP:0001290Generalized hypotonia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM19654586138252
HP:0001290HP:0001290Generalized hypotonia0GRIN2D CL E G H2906442835ORPHA11284588602717
HP:0001290HP:0001290Generalized hypotonia0GRIN2D CL E G H2906442835ORPHA13164588602717
HP:0001290HP:0001290Generalized hypotonia0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0001290HP:0001290Generalized hypotonia0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0001290HP:0001290Generalized hypotonia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0001290HP:0001290Generalized hypotonia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0001290HP:0001290Generalized hypotonia0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM112614880608536
HP:0001290HP:0001290Generalized hypotonia0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM125814880608536
HP:0001290HP:0001290Generalized hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM17621033610876
HP:0001290HP:0001290Generalized hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM19121033610876
HP:0001290HP:0001290Generalized hypotonia0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM11374799601609
HP:0001290HP:0001290Generalized hypotonia0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM11564799601609
HP:0001290HP:0001290Generalized hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM14774801600890
HP:0001290HP:0001290Generalized hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM15274801600890
HP:0001290HP:0001290Generalized hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12134803143450
HP:0001290HP:0001290Generalized hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12424803143450
HP:0001290HP:0001290Generalized hypotonia0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16014839300019
HP:0001290HP:0001290Generalized hypotonia0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16344839300019
HP:0001290HP:0001290Generalized hypotonia0HCN1 CL E G H348980442835ORPHA14454845602780
HP:0001290HP:0001290Generalized hypotonia0HCN1 CL E G H348980442835ORPHA15204845602780
HP:0001290HP:0001290Generalized hypotonia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM126913315300269
HP:0001290HP:0001290Generalized hypotonia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM128713315300269
HP:0001290HP:0001290Generalized hypotonia0HEPACAM CL E G H220296613926Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation613926C3151356OMIM120626361611642
HP:0001290HP:0001290Generalized hypotonia0HEPACAM CL E G H220296613926Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation613926C3151356OMIM123126361611642
HP:0001290HP:0001290Generalized hypotonia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0001290HP:0001290Generalized hypotonia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16024868605837
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16224868605837
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16024868605837
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16224868605837
HP:0001290HP:0001290Generalized hypotonia0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM15134878606869
HP:0001290HP:0001290Generalized hypotonia0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM16174878606869
HP:0001290HP:0001290Generalized hypotonia0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11374908610690
HP:0001290HP:0001290Generalized hypotonia0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11534908610690
HP:0001290HP:0001290Generalized hypotonia0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM13526938614908
HP:0001290HP:0001290Generalized hypotonia0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM14326938614908
HP:0001290HP:0001290Generalized hypotonia0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12034921143054
HP:0001290HP:0001290Generalized hypotonia0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM12234921143054
HP:0001290HP:0001290Generalized hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM15814976609018
HP:0001290HP:0001290Generalized hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM16234976609018
HP:0001290HP:0001290Generalized hypotonia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001290HP:0001290Generalized hypotonia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11915042300610
HP:0001290HP:0001290Generalized hypotonia0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11085044600712
HP:0001290HP:0001290Generalized hypotonia0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11115044600712
HP:0001290HP:0001290Generalized hypotonia0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM14985048602869
HP:0001290HP:0001290Generalized hypotonia0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM15715048602869
HP:0001290HP:0001290Generalized hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13065157308000
HP:0001290HP:0001290Generalized hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13205157308000
HP:0001290HP:0001290Generalized hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0001290HP:0001290Generalized hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0001290HP:0001290Generalized hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11575261118190
HP:0001290HP:0001290Generalized hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11815261118190
HP:0001290HP:0001290Generalized hypotonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM19614348606441
HP:0001290HP:0001290Generalized hypotonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM113214348606441
HP:0001290HP:0001290Generalized hypotonia0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM15330600709
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM147618873606951
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM171818873606951
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0001290HP:0001290Generalized hypotonia0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1785466147470
HP:0001290HP:0001290Generalized hypotonia0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1875466147470
HP:0001290HP:0001290Generalized hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0001290HP:0001290Generalized hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0001290HP:0001290Generalized hypotonia0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0001290HP:0001290Generalized hypotonia0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0001290HP:0001290Generalized hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM11576080600829
HP:0001290HP:0001290Generalized hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM12286080600829
HP:0001290HP:0001290Generalized hypotonia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13176109601491
HP:0001290HP:0001290Generalized hypotonia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13186109601491
HP:0001290HP:0001290Generalized hypotonia0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM175329059300522
HP:0001290HP:0001290Generalized hypotonia0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM183229059300522
HP:0001290HP:0001290Generalized hypotonia0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM13719857615317
HP:0001290HP:0001290Generalized hypotonia0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM14519857615317
HP:0001290HP:0001290Generalized hypotonia0ISPD CL E G H729920370980ORPHA154537276614631
HP:0001290HP:0001290Generalized hypotonia0ISPD CL E G H729920370980ORPHA154937276614631
HP:0001290HP:0001290Generalized hypotonia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0001290HP:0001290Generalized hypotonia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0001290HP:0001290Generalized hypotonia0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0001290HP:0001290Generalized hypotonia0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0001290HP:0001290Generalized hypotonia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0001290HP:0001290Generalized hypotonia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM139617582605880
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM148717582605880
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM139617582605880
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM148717582605880
HP:0001290HP:0001290Generalized hypotonia0KCNA2 CL E G H3737442835ORPHA12486220176262
HP:0001290HP:0001290Generalized hypotonia0KCNA2 CL E G H3737442835ORPHA12796220176262
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H3745442835ORPHA14016231600397
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H3745442835ORPHA14526231600397
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM14016231600397
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM14526231600397
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H374898768ORPHA11266235176264
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H374898768ORPHA11666235176264
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM11776250603305
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM12776250603305
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001290HP:0001290Generalized hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM12896256602208
HP:0001290HP:0001290Generalized hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM1