Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Muscular hypotonia (HP:0001252)help
..Starting node
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Generalized hypotonia (HP:0001290)help
Term ID: 1290
Name: Generalized hypotonia
Synonym: Decreased muscle tone; Generalized muscular hypotonia; Hypotonia; Hypotonia, generalized; Low muscle tone
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
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InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001290HP:0001290Generalized hypotonia0AARS CL E G H16442835ORPHA12120601065
HP:0001290HP:0001290Generalized hypotonia0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0001290HP:0001290Generalized hypotonia0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001290HP:0001290Generalized hypotonia0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1713484200350
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H2897699901ORPHA16121721497611103
HP:0001290HP:0001290Generalized hypotonia0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16121721497611103
HP:0001290HP:0001290Generalized hypotonia0ACADL CL E G H3399900ORPHA123388609576
HP:0001290HP:0001290Generalized hypotonia0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0001290HP:0001290Generalized hypotonia0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM18521690606885
HP:0001290HP:0001290Generalized hypotonia0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11522991600301
HP:0001290HP:0001290Generalized hypotonia0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128376792609575
HP:0001290HP:0001290Generalized hypotonia0ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0001290HP:0001290Generalized hypotonia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119185118100850
HP:0001290HP:0001290Generalized hypotonia0ACP2 CL E G H53200950Acid phosphatase deficiency200950C0268410OMIM1323123171650
HP:0001290HP:0001290Generalized hypotonia0ACTA1 CL E G H5897244ORPHA1217272129102610
HP:0001290HP:0001290Generalized hypotonia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0001290HP:0001290Generalized hypotonia0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11557177104620
HP:0001290HP:0001290Generalized hypotonia0ADAT3 CL E G H113179615286Mental retardation, autosomal recessive 36615286C3809039OMIM126725151615302
HP:0001290HP:0001290Generalized hypotonia0ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM1445237600294
HP:0001290HP:0001290Generalized hypotonia0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0001290HP:0001290Generalized hypotonia0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0001290HP:0001290Generalized hypotonia0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001290HP:0001290Generalized hypotonia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0001290HP:0001290Generalized hypotonia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001290HP:0001290Generalized hypotonia0AGTPBP1 CL E G H23287618276618276618276OMIM115217258606830
HP:0001290HP:0001290Generalized hypotonia0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0001290HP:0001290Generalized hypotonia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H9131238329ORPHA1333438768300169
HP:0001290HP:0001290Generalized hypotonia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333438768300169
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0001290HP:0001290Generalized hypotonia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0001290HP:0001290Generalized hypotonia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175334408610045
HP:0001290HP:0001290Generalized hypotonia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0001290HP:0001290Generalized hypotonia0ALDH7A1 CL E G H501266100Pyridoxine-dependent epilepsy266100C1849508OMIM1129498877107323
HP:0001290HP:0001290Generalized hypotonia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0001290HP:0001290Generalized hypotonia0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H79868324422ORPHA11446330881300776
HP:0001290HP:0001290Generalized hypotonia0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0001290HP:0001290Generalized hypotonia0ALG14 CL E G H199857353327ORPHA165228287612866
HP:0001290HP:0001290Generalized hypotonia0ALG2 CL E G H85365353327ORPHA1515323159607905
HP:0001290HP:0001290Generalized hypotonia0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0001290HP:0001290Generalized hypotonia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0001290HP:0001290Generalized hypotonia0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001290HP:0001290Generalized hypotonia0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0001290HP:0001290Generalized hypotonia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196208473238310
HP:0001290HP:0001290Generalized hypotonia0ANK3 CL E G H288615493Mental retardation, autosomal recessive 37615493C3809672OMIM115328494600465
HP:0001290HP:0001290Generalized hypotonia0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H890585329ORPHA114204560300629
HP:0001290HP:0001290Generalized hypotonia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120442835ORPHA11290567602166
HP:0001290HP:0001290Generalized hypotonia0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM11290567602166
HP:0001290HP:0001290Generalized hypotonia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0001290HP:0001290Generalized hypotonia0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001290HP:0001290Generalized hypotonia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001290HP:0001290Generalized hypotonia0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM11532015853605371
HP:0001290HP:0001290Generalized hypotonia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001290HP:0001290Generalized hypotonia0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0001290HP:0001290Generalized hypotonia0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0001290HP:0001290Generalized hypotonia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11012025419608922
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309256ORPHA1254567713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309263ORPHA1254567713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410309271ORPHA1254567713607574
HP:0001290HP:0001290Generalized hypotonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254567713607574
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H64801442835ORPHA135429561611647
HP:0001290HP:0001290Generalized hypotonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM135429561611647
HP:0001290HP:0001290Generalized hypotonia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0001290HP:0001290Generalized hypotonia0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM153824268614215
HP:0001290HP:0001290Generalized hypotonia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001290HP:0001290Generalized hypotonia0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0001290HP:0001290Generalized hypotonia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H8530094122ORPHA13172779608179
HP:0001290HP:0001290Generalized hypotonia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM13172779608179
HP:0001290HP:0001290Generalized hypotonia0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1857794601731
HP:0001290HP:0001290Generalized hypotonia0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1390823164360
HP:0001290HP:0001290Generalized hypotonia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523442835ORPHA1947851607027
HP:0001290HP:0001290Generalized hypotonia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0001290HP:0001290Generalized hypotonia0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0001290HP:0001290Generalized hypotonia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0001290HP:0001290Generalized hypotonia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H631198756ORPHA1444910555601517
HP:0001290HP:0001290Generalized hypotonia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H126792615349Ehlers-Danlos syndrome, progeroid type, 2615349C3809210OMIM14023217978615291
HP:0001290HP:0001290Generalized hypotonia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0001290HP:0001290Generalized hypotonia0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM12111924137060
HP:0001290HP:0001290Generalized hypotonia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0001290HP:0001290Generalized hypotonia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11015824123614144
HP:0001290HP:0001290Generalized hypotonia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101255986608348
HP:0001290HP:0001290Generalized hypotonia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115319987248611
HP:0001290HP:0001290Generalized hypotonia0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0001290HP:0001290Generalized hypotonia0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0001290HP:0001290Generalized hypotonia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H274169186ORPHA1173151052601248
HP:0001290HP:0001290Generalized hypotonia0BIN1 CL E G H274169189ORPHA1173151052601248
HP:0001290HP:0001290Generalized hypotonia0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0001290HP:0001290Generalized hypotonia0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM164224415613183
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001290HP:0001290Generalized hypotonia0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0001290HP:0001290Generalized hypotonia0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0001290HP:0001290Generalized hypotonia0BRWD3 CL E G H254065300659Mental retardation, X-linked 93300659C1970841OMIM11834317342300553
HP:0001290HP:0001290Generalized hypotonia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0001290HP:0001290Generalized hypotonia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0001290HP:0001290Generalized hypotonia0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0001290HP:0001290Generalized hypotonia0C12orf4 CL E G H57102618221MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66618221OMIM15701184616082
HP:0001290HP:0001290Generalized hypotonia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0001290HP:0001290Generalized hypotonia0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0001290HP:0001290Generalized hypotonia0C19orf12 CL E G H83636320370ORPHA13820625443614297
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H773442835ORPHA125113931388601011
HP:0001290HP:0001290Generalized hypotonia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125113931388601011
HP:0001290HP:0001290Generalized hypotonia0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM1121461424114010
HP:0001290HP:0001290Generalized hypotonia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0001290HP:0001290Generalized hypotonia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11194461497300172
HP:0001290HP:0001290Generalized hypotonia0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001290HP:0001290Generalized hypotonia0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0001290HP:0001290Generalized hypotonia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001290HP:0001290Generalized hypotonia0CCDC22 CL E G H28952300963Ritscher-schinzel syndrome 2300963C4225419OMIM1722128909300859
HP:0001290HP:0001290Generalized hypotonia0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0001290HP:0001290Generalized hypotonia0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1524314153614666
HP:0001290HP:0001290Generalized hypotonia0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM18371689107271
HP:0001290HP:0001290Generalized hypotonia0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0001290HP:0001290Generalized hypotonia0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0001290HP:0001290Generalized hypotonia0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0001290HP:0001290Generalized hypotonia0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0001290HP:0001290Generalized hypotonia0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM198726690613446
HP:0001290HP:0001290Generalized hypotonia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM131088429021610142
HP:0001290HP:0001290Generalized hypotonia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11123212370610523
HP:0001290HP:0001290Generalized hypotonia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM191081875601443
HP:0001290HP:0001290Generalized hypotonia0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0001290HP:0001290Generalized hypotonia0CHD1 CL E G H1105529965ORPHA18391915602118
HP:0001290HP:0001290Generalized hypotonia0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0001290HP:0001290Generalized hypotonia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0001290HP:0001290Generalized hypotonia0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1262531965100720
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11383871966100725
HP:0001290HP:0001290Generalized hypotonia0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0001290HP:0001290Generalized hypotonia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0001290HP:0001290Generalized hypotonia0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0001290HP:0001290Generalized hypotonia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0001290HP:0001290Generalized hypotonia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0001290HP:0001290Generalized hypotonia0CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001290HP:0001290Generalized hypotonia0CLTC CL E G H1213442835ORPHA114622092118955
HP:0001290HP:0001290Generalized hypotonia0CNKSR2 CL E G H22866442835ORPHA1621419701300724
HP:0001290HP:0001290Generalized hypotonia0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM121758011602346
HP:0001290HP:0001290Generalized hypotonia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001290HP:0001290Generalized hypotonia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1614118620606976
HP:0001290HP:0001290Generalized hypotonia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H130375840ORPHA1158062188120320
HP:0001290HP:0001290Generalized hypotonia0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM1158062188120320
HP:0001290HP:0001290Generalized hypotonia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13682190120350
HP:0001290HP:0001290Generalized hypotonia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM196711052197120150
HP:0001290HP:0001290Generalized hypotonia0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM15237942198120160
HP:0001290HP:0001290Generalized hypotonia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0001290HP:0001290Generalized hypotonia0COL6A1 CL E G H129175840ORPHA113710072211120220
HP:0001290HP:0001290Generalized hypotonia0COL6A2 CL E G H129275840ORPHA119111482212120240
HP:0001290HP:0001290Generalized hypotonia0COL6A3 CL E G H129375840ORPHA114316342213120250
HP:0001290HP:0001290Generalized hypotonia0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1702622226603033
HP:0001290HP:0001290Generalized hypotonia0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15492244601683
HP:0001290HP:0001290Generalized hypotonia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14330616812606980
HP:0001290HP:0001290Generalized hypotonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM159925302612837
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001290HP:0001290Generalized hypotonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0001290HP:0001290Generalized hypotonia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM151882263603646
HP:0001290HP:0001290Generalized hypotonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0001290HP:0001290Generalized hypotonia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001290HP:0001290Generalized hypotonia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001290HP:0001290Generalized hypotonia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0001290HP:0001290Generalized hypotonia0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0001290HP:0001290Generalized hypotonia0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0001290HP:0001290Generalized hypotonia0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0001290HP:0001290Generalized hypotonia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001290HP:0001290Generalized hypotonia0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H79848397715ORPHA12725726193611654
HP:0001290HP:0001290Generalized hypotonia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12725726193611654
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0001290HP:0001290Generalized hypotonia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM111642494602618
HP:0001290HP:0001290Generalized hypotonia0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0001290HP:0001290Generalized hypotonia0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM1541802514116806
HP:0001290HP:0001290Generalized hypotonia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0001290HP:0001290Generalized hypotonia0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0001290HP:0001290Generalized hypotonia0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM155325613616120
HP:0001290HP:0001290Generalized hypotonia0CYFIP2 CL E G H26999442835ORPHA134213760606323
HP:0001290HP:0001290Generalized hypotonia0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0001290HP:0001290Generalized hypotonia0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001290HP:0001290Generalized hypotonia0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM164620580608713
HP:0001290HP:0001290Generalized hypotonia0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13329928358609186
HP:0001290HP:0001290Generalized hypotonia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0001290HP:0001290Generalized hypotonia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1783402698248610
HP:0001290HP:0001290Generalized hypotonia0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001290HP:0001290Generalized hypotonia0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM129529812610534
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H1650300536ORPHA121062728602202
HP:0001290HP:0001290Generalized hypotonia0DDOST CL E G H1650614507Congenital disorder of glycosylation type Ir614507C3281084OMIM121062728602202
HP:0001290HP:0001290Generalized hypotonia0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM1101202731191311
HP:0001290HP:0001290Generalized hypotonia0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H1654457260ORPHA1783372745300160
HP:0001290HP:0001290Generalized hypotonia0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM1783372745300160
HP:0001290HP:0001290Generalized hypotonia0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM11712914677602635
HP:0001290HP:0001290Generalized hypotonia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001290HP:0001290Generalized hypotonia0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0001290HP:0001290Generalized hypotonia0DHDDS CL E G H79947442835ORPHA1812220603608172
HP:0001290HP:0001290Generalized hypotonia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM192032861126060
HP:0001290HP:0001290Generalized hypotonia0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM11813823537614984
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1232022898238331
HP:0001290HP:0001290Generalized hypotonia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1232022898238331
HP:0001290HP:0001290Generalized hypotonia0DLG3 CL E G H1741300850X-Linked mental retardation 90300850C3275443OMIM1171962902300189
HP:0001290HP:0001290Generalized hypotonia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM1397037602928300377
HP:0001290HP:0001290Generalized hypotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182332933605377
HP:0001290HP:0001290Generalized hypotonia0DNA2 CL E G H1763352470ORPHA181462939601810
HP:0001290HP:0001290Generalized hypotonia0DNAJC21 CL E G H134218811Balo diseaseORPHA1116027030617048
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H1759442835ORPHA1313242972602377
HP:0001290HP:0001290Generalized hypotonia0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM1313242972602377
HP:0001290HP:0001290Generalized hypotonia0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1201972973603850
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H1785169189ORPHA1525062974602378
HP:0001290HP:0001290Generalized hypotonia0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM1525062974602378
HP:0001290HP:0001290Generalized hypotonia0DNMT3A CL E G H1788615879Tatton-Brown-rahman syndrome615879C4014545OMIM1511682978602769
HP:0001290HP:0001290Generalized hypotonia0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798353327ORPHA1421572995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0001290HP:0001290Generalized hypotonia0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM1421572995191350
HP:0001290HP:0001290Generalized hypotonia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0001290HP:0001290Generalized hypotonia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12933006603564
HP:0001290HP:0001290Generalized hypotonia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001290HP:0001290Generalized hypotonia0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0001290HP:0001290Generalized hypotonia0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0001290HP:0001290Generalized hypotonia0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM1331843151602292
HP:0001290HP:0001290Generalized hypotonia0EEF1A2 CL E G H1917442835ORPHA1122603192602959
HP:0001290HP:0001290Generalized hypotonia0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0001290HP:0001290Generalized hypotonia0EFL1 CL E G H79631811Balo diseaseORPHA135725789617538
HP:0001290HP:0001290Generalized hypotonia0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0001290HP:0001290Generalized hypotonia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0001290HP:0001290Generalized hypotonia0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0001290HP:0001290Generalized hypotonia0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM19983257606686
HP:0001290HP:0001290Generalized hypotonia0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM129803258606454
HP:0001290HP:0001290Generalized hypotonia0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM122833259606273
HP:0001290HP:0001290Generalized hypotonia0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM133883260606687
HP:0001290HP:0001290Generalized hypotonia0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11011623261603945
HP:0001290HP:0001290Generalized hypotonia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0001290HP:0001290Generalized hypotonia0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM12123814198605367
HP:0001290HP:0001290Generalized hypotonia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0001290HP:0001290Generalized hypotonia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0001290HP:0001290Generalized hypotonia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001290HP:0001290Generalized hypotonia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0001290HP:0001290Generalized hypotonia0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001290HP:0001290Generalized hypotonia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0001290HP:0001290Generalized hypotonia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13712723287608451
HP:0001290HP:0001290Generalized hypotonia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0001290HP:0001290Generalized hypotonia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0001290HP:0001290Generalized hypotonia0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0001290HP:0001290Generalized hypotonia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0001290HP:0001290Generalized hypotonia0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001290HP:0001290Generalized hypotonia0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0001290HP:0001290Generalized hypotonia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001290HP:0001290Generalized hypotonia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001290HP:0001290Generalized hypotonia0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481483606611570
HP:0001290HP:0001290Generalized hypotonia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001290HP:0001290Generalized hypotonia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0001290HP:0001290Generalized hypotonia0FGF12 CL E G H2257442835ORPHA110743668601513
HP:0001290HP:0001290Generalized hypotonia0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0001290HP:0001290Generalized hypotonia0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0001290HP:0001290Generalized hypotonia0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H79147370980ORPHA114140217997606596
HP:0001290HP:0001290Generalized hypotonia0FKRP CL E G H7914734515ORPHA114140217997606596
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218370980ORPHA1594503622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM1594503622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0001290HP:0001290Generalized hypotonia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1594503622607440
HP:0001290HP:0001290Generalized hypotonia0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM1105224671610595
HP:0001290HP:0001290Generalized hypotonia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0001290HP:0001290Generalized hypotonia0FLVCR1 CL E G H2898288628ORPHA11725524682609144
HP:0001290HP:0001290Generalized hypotonia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0001290HP:0001290Generalized hypotonia0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM1818326927613622
HP:0001290HP:0001290Generalized hypotonia0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0001290HP:0001290Generalized hypotonia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0001290HP:0001290Generalized hypotonia0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15424081137190
HP:0001290HP:0001290Generalized hypotonia0GABRB2 CL E G H2561442835ORPHA1162124082600232
HP:0001290HP:0001290Generalized hypotonia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM1675264083137192
HP:0001290HP:0001290Generalized hypotonia0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0001290HP:0001290Generalized hypotonia0GAN CL E G H8139643ORPHA1804354137605379
HP:0001290HP:0001290Generalized hypotonia0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1742314180607839
HP:0001290HP:0001290Generalized hypotonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0001290HP:0001290Generalized hypotonia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM121054208238330
HP:0001290HP:0001290Generalized hypotonia0GDI1 CL E G H2664300849X-Linked Mental Retardation 41300849C3887939OMIM1122524226300104
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H2673353327ORPHA1502924241138292
HP:0001290HP:0001290Generalized hypotonia0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0001290HP:0001290Generalized hypotonia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM14267854313238300
HP:0001290HP:0001290Generalized hypotonia0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0001290HP:0001290Generalized hypotonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM1121264367613109
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925353327ORPHA14915122932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14915122932615320
HP:0001290HP:0001290Generalized hypotonia0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM14915122932615320
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001290HP:0001290Generalized hypotonia0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM1241844396139380
HP:0001290HP:0001290Generalized hypotonia0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM110474401604447
HP:0001290HP:0001290Generalized hypotonia0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0001290HP:0001290Generalized hypotonia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0001290HP:0001290Generalized hypotonia0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001290HP:0001290Generalized hypotonia0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001290HP:0001290Generalized hypotonia0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM1105818062138210
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H287993317ORPHA14564556138322
HP:0001290HP:0001290Generalized hypotonia0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H2895363432ORPHA1211074576602368
HP:0001290HP:0001290Generalized hypotonia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM1211074576602368
HP:0001290HP:0001290Generalized hypotonia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM11076294586138252
HP:0001290HP:0001290Generalized hypotonia0GRIN2D CL E G H2906442835ORPHA12774588602717
HP:0001290HP:0001290Generalized hypotonia0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM1201184593604473
HP:0001290HP:0001290Generalized hypotonia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0001290HP:0001290Generalized hypotonia0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM1159814880608536
HP:0001290HP:0001290Generalized hypotonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM1136321033610876
HP:0001290HP:0001290Generalized hypotonia0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001290HP:0001290Generalized hypotonia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1713024801600890
HP:0001290HP:0001290Generalized hypotonia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1671484803143450
HP:0001290HP:0001290Generalized hypotonia0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0001290HP:0001290Generalized hypotonia0HCN1 CL E G H348980442835ORPHA1402854845602780
HP:0001290HP:0001290Generalized hypotonia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0001290HP:0001290Generalized hypotonia0HEPACAM CL E G H220296613926Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation613926C3151356OMIM12817626361611642
HP:0001290HP:0001290Generalized hypotonia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM164824868605837
HP:0001290HP:0001290Generalized hypotonia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0001290HP:0001290Generalized hypotonia0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM11953524878606869
HP:0001290HP:0001290Generalized hypotonia0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119934908610690
HP:0001290HP:0001290Generalized hypotonia0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM123326938614908
HP:0001290HP:0001290Generalized hypotonia0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM1151444921143054
HP:0001290HP:0001290Generalized hypotonia0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM1493734976609018
HP:0001290HP:0001290Generalized hypotonia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001290HP:0001290Generalized hypotonia0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0001290HP:0001290Generalized hypotonia0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM1683215048602869
HP:0001290HP:0001290Generalized hypotonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0001290HP:0001290Generalized hypotonia0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171794800300256
HP:0001290HP:0001290Generalized hypotonia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM161285261118190
HP:0001290HP:0001290Generalized hypotonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0001290HP:0001290Generalized hypotonia0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM1155330600709
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM12828618873606951
HP:0001290HP:0001290Generalized hypotonia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0001290HP:0001290Generalized hypotonia0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0001290HP:0001290Generalized hypotonia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15432521474613037
HP:0001290HP:0001290Generalized hypotonia0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0001290HP:0001290Generalized hypotonia0INPPL1 CL E G H3636258480Opsismodysplasia258480C0432219OMIM132636080600829
HP:0001290HP:0001290Generalized hypotonia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0001290HP:0001290Generalized hypotonia0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15753929059300522
HP:0001290HP:0001290Generalized hypotonia0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM132919857615317
HP:0001290HP:0001290Generalized hypotonia0ISPD CL E G H729920370980ORPHA147537276614631
HP:0001290HP:0001290Generalized hypotonia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0001290HP:0001290Generalized hypotonia0ITPR1 CL E G H3708208513ORPHA1955016180147265
HP:0001290HP:0001290Generalized hypotonia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0001290HP:0001290Generalized hypotonia0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0001290HP:0001290Generalized hypotonia0KCNA2 CL E G H3737442835ORPHA1211296220176262
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H3745442835ORPHA1302786231600397
HP:0001290HP:0001290Generalized hypotonia0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM1302786231600397
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H374898768ORPHA112946235176264
HP:0001290HP:0001290Generalized hypotonia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM112946235176264
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0001290HP:0001290Generalized hypotonia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0001290HP:0001290Generalized hypotonia0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM1332336256602208
HP:0001290HP:0001290Generalized hypotonia0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM131410566296602235
HP:0001290HP:0001290Generalized hypotonia0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM14397818865608167
HP:0001290HP:0001290Generalized hypotonia0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM1173729079609132
HP:0001290HP:0001290Generalized hypotonia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0001290HP:0001290Generalized hypotonia0KIAA0586 CL E G H9786397715ORPHA13115519960610178
HP:0001290HP:0001290Generalized hypotonia0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0001290HP:0001290Generalized hypotonia0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0001290HP:0001290Generalized hypotonia0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0001290HP:0001290Generalized hypotonia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1431059888601255
HP:0001290HP:0001290Generalized hypotonia0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0001290HP:0001290Generalized hypotonia0KIF22 CL E G H3835603546Spondyloepimetaphyseal dysplasia with multiple dislocations603546C1863732OMIM142726391603213
HP:0001290HP:0001290Generalized hypotonia0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1692496323602821
HP:0001290HP:0001290Generalized hypotonia0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0001290HP:0001290Generalized hypotonia0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0001290HP:0001290Generalized hypotonia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0001290HP:0001290Generalized hypotonia0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM15686404615620
HP:0001290HP:0001290Generalized hypotonia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM138014996482156225
HP:0001290HP:0001290Generalized hypotonia0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM1102146486150240
HP:0001290HP:0001290Generalized hypotonia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM11273686487150325
HP:0001290HP:0001290Generalized hypotonia0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0001290HP:0001290Generalized hypotonia0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001290HP:0001290Generalized hypotonia0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0001290HP:0001290Generalized hypotonia0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM194818712608303
HP:0001290HP:0001290Generalized hypotonia0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001290HP:0001290Generalized hypotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0001290HP:0001290Generalized hypotonia0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM1917230922610350
HP:0001290HP:0001290Generalized hypotonia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0001290HP:0001290Generalized hypotonia0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1181686649616112
HP:0001290HP:0001290Generalized hypotonia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12214116697603506
HP:0001290HP:0001290Generalized hypotonia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM12146715714607544
HP:0001290HP:0001290Generalized hypotonia0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM1182396717604710
HP:0001290HP:0001290Generalized hypotonia0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0001290HP:0001290Generalized hypotonia0MAG CL E G H4099459056ORPHA14896783159460
HP:0001290HP:0001290Generalized hypotonia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0001290HP:0001290Generalized hypotonia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001290HP:0001290Generalized hypotonia0MANBA CL E G H4126248510Beta-D-mannosidosis248510C4048196OMIM1211486831609489
HP:0001290HP:0001290Generalized hypotonia0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM173617797609479
HP:0001290HP:0001290Generalized hypotonia0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0001290HP:0001290Generalized hypotonia0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM167425133609728
HP:0001290HP:0001290Generalized hypotonia0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM174015505606048
HP:0001290HP:0001290Generalized hypotonia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11082736936609010
HP:0001290HP:0001290Generalized hypotonia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11172376937609014
HP:0001290HP:0001290Generalized hypotonia0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM1211306946603294
HP:0001290HP:0001290Generalized hypotonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0001290HP:0001290Generalized hypotonia0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0001290HP:0001290Generalized hypotonia0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0001290HP:0001290Generalized hypotonia0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0001290HP:0001290Generalized hypotonia0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0001290HP:0001290Generalized hypotonia0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM163325897614397
HP:0001290HP:0001290Generalized hypotonia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0001290HP:0001290Generalized hypotonia0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM181247104602241
HP:0001290HP:0001290Generalized hypotonia0MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1612407105156845
HP:0001290HP:0001290Generalized hypotonia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0001290HP:0001290Generalized hypotonia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0001290HP:0001290Generalized hypotonia0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM1523347121609883
HP:0001290HP:0001290Generalized hypotonia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0001290HP:0001290Generalized hypotonia0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0001290HP:0001290Generalized hypotonia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0001290HP:0001290Generalized hypotonia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0001290HP:0001290Generalized hypotonia0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0001290HP:0001290Generalized hypotonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM11411425221611935
HP:0001290HP:0001290Generalized hypotonia0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001290HP:0001290Generalized hypotonia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0001290HP:0001290Generalized hypotonia0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM11826723573616661
HP:0001290HP:0001290Generalized hypotonia0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM126521606614738
HP:0001290HP:0001290Generalized hypotonia0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17857207604041
HP:0001290HP:0001290Generalized hypotonia0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211747216154550
HP:0001290HP:0001290Generalized hypotonia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0001290HP:0001290Generalized hypotonia0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12464447225159440
HP:0001290HP:0001290Generalized hypotonia0MRE11 CL E G H4361251347ORPHA15711047230600814
HP:0001290HP:0001290Generalized hypotonia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0001290HP:0001290Generalized hypotonia0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145816618611994
HP:0001290HP:0001290Generalized hypotonia0MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0001290HP:0001290Generalized hypotonia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0001290HP:0001290Generalized hypotonia0MT-TE CL E G H4556254864ORPHA17479590025
HP:0001290HP:0001290Generalized hypotonia0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001290HP:0001290Generalized hypotonia0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001290HP:0001290Generalized hypotonia0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001290HP:0001290Generalized hypotonia0MTMR14 CL E G H64419169189ORPHA137326190611089
HP:0001290HP:0001290Generalized hypotonia0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM12613819261614667
HP:0001290HP:0001290Generalized hypotonia0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0001290HP:0001290Generalized hypotonia0MTR CL E G H4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPE250940C1855128OMIM1444287468156570
HP:0001290HP:0001290Generalized hypotonia0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM1363287473602568
HP:0001290HP:0001290Generalized hypotonia0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0001290HP:0001290Generalized hypotonia0MYF6 CL E G H4618169189ORPHA12647566159991
HP:0001290HP:0001290Generalized hypotonia0MYH7 CL E G H4625324604ORPHA1100224407577160760
HP:0001290HP:0001290Generalized hypotonia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001290HP:0001290Generalized hypotonia0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1613818150607295
HP:0001290HP:0001290Generalized hypotonia0MYO5A CL E G H464479476ORPHA1121167602160777
HP:0001290HP:0001290Generalized hypotonia0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM1121167602160777
HP:0001290HP:0001290Generalized hypotonia0NAA10 CL E G H8260276432ORPHA11029618704300013
HP:0001290HP:0001290Generalized hypotonia0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001290HP:0001290Generalized hypotonia0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0001290HP:0001290Generalized hypotonia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM1111307631104170
HP:0001290HP:0001290Generalized hypotonia0NALCN CL E G H259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delay616266C4225398OMIM16524719082611549
HP:0001290HP:0001290Generalized hypotonia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0001290HP:0001290Generalized hypotonia0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM1149626274612803
HP:0001290HP:0001290Generalized hypotonia0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM1113926742610647
HP:0001290HP:0001290Generalized hypotonia0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1103118453608862
HP:0001290HP:0001290Generalized hypotonia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0001290HP:0001290Generalized hypotonia0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM17847680600853
HP:0001290HP:0001290Generalized hypotonia0NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM115820371612638
HP:0001290HP:0001290Generalized hypotonia0NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM143123987614530
HP:0001290HP:0001290Generalized hypotonia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM139221034611776
HP:0001290HP:0001290Generalized hypotonia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11011328625612392
HP:0001290HP:0001290Generalized hypotonia0NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM12477698603839
HP:0001290HP:0001290Generalized hypotonia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001290HP:0001290Generalized hypotonia0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM181357717600532
HP:0001290HP:0001290Generalized hypotonia0NECAP1 CL E G H25977442835ORPHA118224539611623
HP:0001290HP:0001290Generalized hypotonia0NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM118224539611623
HP:0001290HP:0001290Generalized hypotonia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0001290HP:0001290Generalized hypotonia0NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0001290HP:0001290Generalized hypotonia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0001290HP:0001290Generalized hypotonia0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0001290HP:0001290Generalized hypotonia0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM12323417646610661
HP:0001290HP:0001290Generalized hypotonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM114313611825600635
HP:0001290HP:0001290Generalized hypotonia0NKX6-2 CL E G H84504527497ORPHA1910419321605955
HP:0001290HP:0001290Generalized hypotonia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001290HP:0001290Generalized hypotonia0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0001290HP:0001290Generalized hypotonia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0001290HP:0001290Generalized hypotonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM14787167897607623
HP:0001290HP:0001290Generalized hypotonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0001290HP:0001290Generalized hypotonia0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM1794037905607100
HP:0001290HP:0001290Generalized hypotonia0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0001290HP:0001290Generalized hypotonia0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM134510778008600565
HP:0001290HP:0001290Generalized hypotonia0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0001290HP:0001290Generalized hypotonia0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0001290HP:0001290Generalized hypotonia0NTRK2 CL E G H4915442835ORPHA113708032600456
HP:0001290HP:0001290Generalized hypotonia0NUS1 CL E G H116150442835ORPHA1225721042610463
HP:0001290HP:0001290Generalized hypotonia0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM1225721042610463
HP:0001290HP:0001290Generalized hypotonia0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0001290HP:0001290Generalized hypotonia0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0001290HP:0001290Generalized hypotonia0OGDH CL E G H4967203740Alpha-ketoglutarate dehydrogenase deficiency203740C2752074OMIM11678124613022
HP:0001290HP:0001290Generalized hypotonia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0001290HP:0001290Generalized hypotonia0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0001290HP:0001290Generalized hypotonia0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0001290HP:0001290Generalized hypotonia0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0001290HP:0001290Generalized hypotonia0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0001290HP:0001290Generalized hypotonia0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0001290HP:0001290Generalized hypotonia0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0001290HP:0001290Generalized hypotonia0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0001290HP:0001290Generalized hypotonia0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM1423078636608786
HP:0001290HP:0001290Generalized hypotonia0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM111448646126090
HP:0001290HP:0001290Generalized hypotonia0PDE6D CL E G H51472754ORPHA11398788602676
HP:0001290HP:0001290Generalized hypotonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11934088806300502
HP:0001290HP:0001290Generalized hypotonia0PDHB CL E G H5162614111Pyruvate dehydrogenase E1-beta deficiency614111C3279841OMIM1131008808179060
HP:0001290HP:0001290Generalized hypotonia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM13729279605993
HP:0001290HP:0001290Generalized hypotonia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001290HP:0001290Generalized hypotonia0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11404898850602136
HP:0001290HP:0001290Generalized hypotonia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0001290HP:0001290Generalized hypotonia0PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM1323478851602859
HP:0001290HP:0001290Generalized hypotonia0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1371818854601758
HP:0001290HP:0001290Generalized hypotonia0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM1371818854601758
HP:0001290HP:0001290Generalized hypotonia0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1101968855601789
HP:0001290HP:0001290Generalized hypotonia0PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM151768856601791
HP:0001290HP:0001290Generalized hypotonia0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM1151498857603360
HP:0001290HP:0001290Generalized hypotonia0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0001290HP:0001290Generalized hypotonia0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0001290HP:0001290Generalized hypotonia0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0001290HP:0001290Generalized hypotonia0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0001290HP:0001290Generalized hypotonia0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0001290HP:0001290Generalized hypotonia0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0001290HP:0001290Generalized hypotonia0PEX6 CL E G H5190614862Peroxisome biogenesis disorder 4a (zellweger)614862C3553936OMIM11093758859601498
HP:0001290HP:0001290Generalized hypotonia0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0001290HP:0001290Generalized hypotonia0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM175217893615187
HP:0001290HP:0001290Generalized hypotonia0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM1186023719611801
HP:0001290HP:0001290Generalized hypotonia0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM1161088907172100
HP:0001290HP:0001290Generalized hypotonia0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0001290HP:0001290Generalized hypotonia0PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262358927172490
HP:0001290HP:0001290Generalized hypotonia0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001290HP:0001290Generalized hypotonia0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0001290HP:0001290Generalized hypotonia0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1640025985616918
HP:0001290HP:0001290Generalized hypotonia0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM12148964600154
HP:0001290HP:0001290Generalized hypotonia0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0001290HP:0001290Generalized hypotonia0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0001290HP:0001290Generalized hypotonia0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0001290HP:0001290Generalized hypotonia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0001290HP:0001290Generalized hypotonia0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM11611226031610274
HP:0001290HP:0001290Generalized hypotonia0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573798975171834
HP:0001290HP:0001290Generalized hypotonia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11792899039603604
HP:0001290HP:0001290Generalized hypotonia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0001290HP:0001290Generalized hypotonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0001290HP:0001290Generalized hypotonia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0001290HP:0001290Generalized hypotonia0PMP22 CL E G H537698916ORPHA11653379118601097
HP:0001290HP:0001290Generalized hypotonia0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11653379118601097
HP:0001290HP:0001290Generalized hypotonia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM189618667613036
HP:0001290HP:0001290Generalized hypotonia0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1245179154605610
HP:0001290HP:0001290Generalized hypotonia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001290HP:0001290Generalized hypotonia0PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0001290HP:0001290Generalized hypotonia0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0001290HP:0001290Generalized hypotonia0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM164928900612123
HP:0001290HP:0001290Generalized hypotonia0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130011969179174763
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130011969179174763
HP:0001290HP:0001290Generalized hypotonia0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0001290HP:0001290Generalized hypotonia0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0001290HP:0001290Generalized hypotonia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0001290HP:0001290Generalized hypotonia0POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM1919125902614828
HP:0001290HP:0001290Generalized hypotonia0POMT1 CL E G H10585370980ORPHA1965089202607423
HP:0001290HP:0001290Generalized hypotonia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0001290HP:0001290Generalized hypotonia0POU1F1 CL E G H5449613038Pituitary hormone deficiency, combined 1613038C2751608OMIM146729210173110
HP:0001290HP:0001290Generalized hypotonia0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0001290HP:0001290Generalized hypotonia0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0001290HP:0001290Generalized hypotonia0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0001290HP:0001290Generalized hypotonia0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0001290HP:0001290Generalized hypotonia0PPP3CA CL E G H5530442835ORPHA111399314114105
HP:0001290HP:0001290Generalized hypotonia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM1773299325600722
HP:0001290HP:0001290Generalized hypotonia0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0001290HP:0001290Generalized hypotonia0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11827030228609557
HP:0001290HP:0001290Generalized hypotonia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001290HP:0001290Generalized hypotonia0PRKCG CL E G H558298763ORPHA1521859402176980
HP:0001290HP:0001290Generalized hypotonia0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0001290HP:0001290Generalized hypotonia0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1117325557610087
HP:0001290HP:0001290Generalized hypotonia0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM1284659453606810
HP:0001290HP:0001290Generalized hypotonia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322599462311850
HP:0001290HP:0001290Generalized hypotonia0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1102713420617413
HP:0001290HP:0001290Generalized hypotonia0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16269913797605725
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H5660309263ORPHA1272209498176801
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H5660309271ORPHA1272209498176801
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H5660309256ORPHA1272209498176801
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1272209498176801
HP:0001290HP:0001290Generalized hypotonia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1272209498176801
HP:0001290HP:0001290Generalized hypotonia0PTDSS1 CL E G H9791151050Lenz-Majewski hyperostosis syndrome151050C0432269OMIM17609587612792
HP:0001290HP:0001290Generalized hypotonia0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM123424265608625
HP:0001290HP:0001290Generalized hypotonia0PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM1111025461616283
HP:0001290HP:0001290Generalized hypotonia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0001290HP:0001290Generalized hypotonia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0001290HP:0001290Generalized hypotonia0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0001290HP:0001290Generalized hypotonia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0001290HP:0001290Generalized hypotonia0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0001290HP:0001290Generalized hypotonia0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM11164049834607642
HP:0001290HP:0001290Generalized hypotonia0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM13721621406611524
HP:0001290HP:0001290Generalized hypotonia0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0001290HP:0001290Generalized hypotonia0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0001290HP:0001290Generalized hypotonia0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0001290HP:0001290Generalized hypotonia0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1628925964613114
HP:0001290HP:0001290Generalized hypotonia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0001290HP:0001290Generalized hypotonia0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1169721176614917
HP:0001290HP:0001290Generalized hypotonia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM11511224116610330
HP:0001290HP:0001290Generalized hypotonia0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM146721150610432
HP:0001290HP:0001290Generalized hypotonia0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM1245634016601428
HP:0001290HP:0001290Generalized hypotonia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001290HP:0001290Generalized hypotonia0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM15143229168610937
HP:0001290HP:0001290Generalized hypotonia0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0001290HP:0001290Generalized hypotonia0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0001290HP:0001290Generalized hypotonia0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM117130910432300075
HP:0001290HP:0001290Generalized hypotonia0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM14321617296604712
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H6261169186ORPHA1688309410483180901
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H6261169189ORPHA1688309410483180901
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H6261324581ORPHA1688309410483180901
HP:0001290HP:0001290Generalized hypotonia0RYR1 CL E G H626198905ORPHA1688309410483180901
HP:0001290HP:0001290Generalized hypotonia0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001290HP:0001290Generalized hypotonia0SBDS CL E G H51119811Balo diseaseORPHA1906019440607444
HP:0001290HP:0001290Generalized hypotonia0SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM1618210547602286
HP:0001290HP:0001290Generalized hypotonia0SCN1B CL E G H6324617350Epileptic encephalopathy, early infantile, 52617350C4479236OMIM13128810586600235
HP:0001290HP:0001290Generalized hypotonia0SCN3A CL E G H6328442835ORPHA11942210590182391
HP:0001290HP:0001290Generalized hypotonia0SCN8A CL E G H6334442835ORPHA110375010596600702
HP:0001290HP:0001290Generalized hypotonia0SCN8A CL E G H6334614558Early infantile epileptic encephalopathy 13614558C3281191OMIM110375010596600702
HP:0001290HP:0001290Generalized hypotonia0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1129109210597603415
HP:0001290HP:0001290Generalized hypotonia0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001290HP:0001290Generalized hypotonia0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM13727510604604272
HP:0001290HP:0001290Generalized hypotonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0001290HP:0001290Generalized hypotonia0SELENON CL E G H5719097244ORPHA16335415999606210
HP:0001290HP:0001290Generalized hypotonia0SELENON CL E G H57190324604ORPHA16335415999606210
HP:0001290HP:0001290Generalized hypotonia0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM16335415999606210
HP:0001290HP:0001290Generalized hypotonia0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15214021061614725
HP:0001290HP:0001290Generalized hypotonia0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM181031546600943
HP:0001290HP:0001290Generalized hypotonia0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0001290HP:0001290Generalized hypotonia0SETD2 CL E G H29072616831Luscan-lumish syndrome616831C4085873OMIM11943318420612778
HP:0001290HP:0001290Generalized hypotonia0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM148916088615564
HP:0001290HP:0001290Generalized hypotonia0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1182910817603729
HP:0001290HP:0001290Generalized hypotonia0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0001290HP:0001290Generalized hypotonia0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14916724624608005
HP:0001290HP:0001290Generalized hypotonia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0001290HP:0001290Generalized hypotonia0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1919010889603714
HP:0001290HP:0001290Generalized hypotonia0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0001290HP:0001290Generalized hypotonia0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0001290HP:0001290Generalized hypotonia0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0001290HP:0001290Generalized hypotonia0SLC13A5 CL E G H284111442835ORPHA12131223089608305
HP:0001290HP:0001290Generalized hypotonia0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM12131223089608305
HP:0001290HP:0001290Generalized hypotonia0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15519210933604322
HP:0001290HP:0001290Generalized hypotonia0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0001290HP:0001290Generalized hypotonia0SLC18A2 CL E G H6571352649ORPHA185110935193001
HP:0001290HP:0001290Generalized hypotonia0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM168910936600336
HP:0001290HP:0001290Generalized hypotonia0SLC1A2 CL E G H6506442835ORPHA184910940600300
HP:0001290HP:0001290Generalized hypotonia0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM184910940600300
HP:0001290HP:0001290Generalized hypotonia0SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM11814510941600111
HP:0001290HP:0001290Generalized hypotonia0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM184610942600229
HP:0001290HP:0001290Generalized hypotonia0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0001290HP:0001290Generalized hypotonia0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM13820810985603861
HP:0001290HP:0001290Generalized hypotonia0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421021421613698
HP:0001290HP:0001290Generalized hypotonia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0001290HP:0001290Generalized hypotonia0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM11723410990103220
HP:0001290HP:0001290Generalized hypotonia0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11717425198610826
HP:0001290HP:0001290Generalized hypotonia0SLC2A10 CL E G H81031208050Arterial tortuosity syndrome208050C1859726OMIM13533913444606145
HP:0001290HP:0001290Generalized hypotonia0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM176095603690
HP:0001290HP:0001290Generalized hypotonia0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14022320305609826
HP:0001290HP:0001290Generalized hypotonia0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0001290HP:0001290Generalized hypotonia0SLC35A3 CL E G H23443615553Arthrogryposis, mental retardation, and seizures615553C3809910OMIM157911023605632
HP:0001290HP:0001290Generalized hypotonia0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM1716320197605881
HP:0001290HP:0001290Generalized hypotonia0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM173620862608732
HP:0001290HP:0001290Generalized hypotonia0SLC45A1 CL E G H50651617532INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES617532C4479636OMIM135717939605763
HP:0001290HP:0001290Generalized hypotonia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001290HP:0001290Generalized hypotonia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM12726030224607882
HP:0001290HP:0001290Generalized hypotonia0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12016914025608761
HP:0001290HP:0001290Generalized hypotonia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001290HP:0001290Generalized hypotonia0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001290HP:0001290Generalized hypotonia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0001290HP:0001290Generalized hypotonia0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157247311100603254
HP:0001290HP:0001290Generalized hypotonia0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0001290HP:0001290Generalized hypotonia0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0001290HP:0001290Generalized hypotonia0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0001290HP:0001290Generalized hypotonia0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0001290HP:0001290Generalized hypotonia0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM112830587608241
HP:0001290HP:0001290Generalized hypotonia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0001290HP:0001290Generalized hypotonia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0001290HP:0001290Generalized hypotonia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0001290HP:0001290Generalized hypotonia0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM1196114977616105
HP:0001290HP:0001290Generalized hypotonia0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0001290HP:0001290Generalized hypotonia0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0001290HP:0001290Generalized hypotonia0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0001290HP:0001290Generalized hypotonia0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0001290HP:0001290Generalized hypotonia0SPART CL E G H23111101000ORPHA1718318514607111
HP:0001290HP:0001290Generalized hypotonia0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0001290HP:0001290Generalized hypotonia0SPEG CL E G H10290169186ORPHA11319816901615950
HP:0001290HP:0001290Generalized hypotonia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM11319816901615950
HP:0001290HP:0001290Generalized hypotonia0SPRED1 CL E G H161742611431Legius syndrome611431C1969623OMIM17236220249609291
HP:0001290HP:0001290Generalized hypotonia0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM14093211273182810
HP:0001290HP:0001290Generalized hypotonia0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0001290HP:0001290Generalized hypotonia0SRP54 CL E G H6729811Balo diseaseORPHA133111301604857
HP:0001290HP:0001290Generalized hypotonia0SSR4 CL E G H6748370927ORPHA1725011326300090
HP:0001290HP:0001290Generalized hypotonia0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0001290HP:0001290Generalized hypotonia0ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM1512610866606494
HP:0001290HP:0001290Generalized hypotonia0ST3GAL5 CL E G H8869370938ORPHA1716310872604402
HP:0001290HP:0001290Generalized hypotonia0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1716310872604402
HP:0001290HP:0001290Generalized hypotonia0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0001290HP:0001290Generalized hypotonia0STRA6 CL E G H64220601186Microphthalmia syndromic 9601186C1832661OMIM13319430650610745
HP:0001290HP:0001290Generalized hypotonia0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM1512930172608626
HP:0001290HP:0001290Generalized hypotonia0STT3A CL E G H3703370921ORPHA131066172601134
HP:0001290HP:0001290Generalized hypotonia0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM131066172601134
HP:0001290HP:0001290Generalized hypotonia0STT3B CL E G H201595370924ORPHA156630611608605
HP:0001290HP:0001290Generalized hypotonia0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM156630611608605
HP:0001290HP:0001290Generalized hypotonia0STXBP1 CL E G H6812442835ORPHA119553811444602926
HP:0001290HP:0001290Generalized hypotonia0STXBP1 CL E G H6812612164Early infantile epileptic encephalopathy 4612164C2677326OMIM119553811444602926
HP:0001290HP:0001290Generalized hypotonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0001290