Human Phenotype Ontology 
Grandparent Node:
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Abnormality of muscle physiology (HP:0011804)help
Parent Node:
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Abnormal muscle tone (HP:0003808)help
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Muscular hypotonia (HP:0001252)help
Term ID: 1252
Name: Muscular hypotonia
Synonym: Muscle hypotonia
Definition: Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Comments:
Reference: HP:0001252
Genes and Diseases:

 HPO-Disease-Gene Association for HP:0001252 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0001252HP:0001252Muscular hypotonia0A2ML1144568648Noonan syndromeORPHA12120
HP:0001252HP:0001252Muscular hypotonia0AARS16616339Epileptic encephalopathy, early infantile, 29C4225361OMIM15141
HP:0001252HP:0001252Muscular hypotonia0AASS10157238700HyperlysinemiaC0268553OMIM1315
HP:0001252HP:0001252Muscular hypotonia0ABCD45826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPEC3553915OMIM553
HP:0001252HP:0001252Muscular hypotonia0ACACA31613933Acetyl-CoA: carboxylase deficiencyC0268603OMIM2
HP:0001252HP:0001252Muscular hypotonia0ACAD827034611283Deficiency of isobutyryl-CoA dehydrogenaseC1969809OMIM2158
HP:0001252HP:0001252Muscular hypotonia0ACAD928976611126Acyl-CoA dehydrogenase family, member 9, deficiency ofC1970173OMIM4198
HP:0001252HP:0001252Muscular hypotonia0ACADM34201450Medium-chain acyl-coenzyme A dehydrogenase deficiencyC0220710OMIM168197
HP:0001252HP:0001252Muscular hypotonia0ACADS35201470Deficiency of butyryl-CoA dehydrogenaseC0342783OMIM8390
HP:0001252HP:0001252Muscular hypotonia0ACADSB36610006Deficiency of 2-methylbutyryl-CoA dehydrogenaseC1864912OMIM14111
HP:0001252HP:0001252Muscular hypotonia0ACADVL37201475Very long chain acyl-CoA dehydrogenase deficiencyC0342784OMIM260200
HP:0001252HP:0001252Muscular hypotonia0ACAT239614055Acetyl-CoA acetyltransferase-2 deficiencyC1863485OMIM
HP:0001252HP:0001252Muscular hypotonia0ACO250614559Infantile cerebellar-retinal degenerationC3281192OMIM1260
HP:0001252HP:0001252Muscular hypotonia0ACOX1512971Peroxisomal acyl-CoA oxidase deficiencyORPHA24120
HP:0001252HP:0001252Muscular hypotonia0ACP253200950Acid phosphatase deficiencyC0268410OMIM2
HP:0001252HP:0001252Muscular hypotonia0ACSL4218286818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeORPHA619
HP:0001252HP:0001252Muscular hypotonia0ACTA1582020Congenital fiber-type disproportion myopathyORPHA20596
HP:0001252HP:0001252Muscular hypotonia0ACTB60243310Baraitser-Winter syndrome 1C1855722OMIM2772
HP:0001252HP:0001252Muscular hypotonia0ACY195609924Aminoacylase 1 deficiencyC1835922OMIM1413
HP:0001252HP:0001252Muscular hypotonia0ADAT3113179615286Mental retardation, autosomal recessive 36C3809039OMIM19
HP:0001252HP:0001252Muscular hypotonia0ADCY61122680Hypomyelination neuropathy-arthrogryposis syndromeORPHA42
HP:0001252HP:0001252Muscular hypotonia0ADCY6112616287Lethal congenital contracture syndrome 8C4225385OMIM42
HP:0001252HP:0001252Muscular hypotonia0ADK132614300Hypermethioninemia due to adenosine kinase deficiencyC3280381OMIM1226
HP:0001252HP:0001252Muscular hypotonia0ADNP23394615873Helsmoortel-van der aa syndromeC4014538OMIM4747
HP:0001252HP:0001252Muscular hypotonia0ADSL158103050Adenylosuccinate lyase deficiencyC0268126OMIM53118
HP:0001252HP:0001252Muscular hypotonia0AGA175208400AspartylglycosaminuriaC0268225OMIM3776
HP:0001252HP:0001252Muscular hypotonia0AGK55750212350Cataract and cardiomyopathyC1859317OMIM1982
HP:0001252HP:0001252Muscular hypotonia0AHDC127245615829Xia-Gibbs syndromeC4014419OMIM1236
HP:0001252HP:0001252Muscular hypotonia0AHI154806475Acquired hypoprothrombinemiaORPHA84175
HP:0001252HP:0001252Muscular hypotonia0AHI154806608629Joubert syndrome 3C1837713OMIM84175
HP:0001252HP:0001252Muscular hypotonia0AHI154806220493Joubert syndrome with ocular defectORPHA84175
HP:0001252HP:0001252Muscular hypotonia0AIPL12374665Leber congenital amaurosisORPHA73114
HP:0001252HP:0001252Muscular hypotonia0ALAD210612740Porphobilinogen synthase deficiencyC0268328OMIM1262
HP:0001252HP:0001252Muscular hypotonia0ALDH18A15832616603Cutis laxa, autosomal dominant 3C4225268OMIM2589
HP:0001252HP:0001252Muscular hypotonia0ALDH18A15832219150Cutis laxa-corneal clouding-oligophrenia syndromeC0268354OMIM2589
HP:0001252HP:0001252Muscular hypotonia0ALDH5A179152222q13.3 deletion syndromeC1853490ORPHA71108
HP:0001252HP:0001252Muscular hypotonia0ALDH5A17915271980Succinate-semialdehyde dehydrogenase deficiencyC0268631OMIM71108
HP:0001252HP:0001252Muscular hypotonia0ALDH6A14329614105Methylmalonate semialdehyde dehydrogenase deficiencyC1864150OMIM535
HP:0001252HP:0001252Muscular hypotonia0ALDH7A1501266100Pyridoxine-dependent epilepsyC1849508OMIM112227
HP:0001252HP:0001252Muscular hypotonia0ALDH7A15013006Pyridoxine-dependent epilepsyORPHA112227
HP:0001252HP:0001252Muscular hypotonia0ALG156052608540Congenital disorder of glycosylation type 1KC1837896OMIM4258
HP:0001252HP:0001252Muscular hypotonia0ALG127908779324ALG12-CDGORPHA1368
HP:0001252HP:0001252Muscular hypotonia0ALG1379868300884Epileptic encephalopathy, early infantile, 36C3550904OMIM696
HP:0001252HP:0001252Muscular hypotonia0ALG31019579321ALG3-CDGORPHA1437
HP:0001252HP:0001252Muscular hypotonia0ALG62992979320ALG6-CDGORPHA2666
HP:0001252HP:0001252Muscular hypotonia0ALG97979679328ALG9-CDGORPHA493
HP:0001252HP:0001252Muscular hypotonia0ALPL249241500Infantile hypophosphatasiaC0268412OMIM283126
HP:0001252HP:0001252Muscular hypotonia0AMER1139285300373Osteopathia striata with cranial sclerosisC0432268OMIM3434
HP:0001252HP:0001252Muscular hypotonia0AMMECR1994986818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeORPHA22
HP:0001252HP:0001252Muscular hypotonia0AMT275605899Non-ketotic hyperglycinemiaC0751748OMIM9556
HP:0001252HP:0001252Muscular hypotonia0ANK3288615493Mental retardation, autosomal recessive 37C3809672OMIM10176
HP:0001252HP:0001252Muscular hypotonia0AP1S11174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermaC1836330OMIM21
HP:0001252HP:0001252Muscular hypotonia0AP1S2890585335Fried syndromeORPHA1113
HP:0001252HP:0001252Muscular hypotonia0APC210297821Bardet-Biedl syndrome 2C2936863ORPHA11
HP:0001252HP:0001252Muscular hypotonia0APOPT184334220110Cytochrome-c oxidase deficiencyC0268237OMIM517
HP:0001252HP:0001252Muscular hypotonia0AR367481Kennedy diseaseORPHA583125
HP:0001252HP:0001252Muscular hypotonia0ARFGEF210564608097Heterotopia, periventricular, autosomal recessiveC1842563OMIM12179
HP:0001252HP:0001252Muscular hypotonia0ARHGAP3157514100300Adams-Oliver syndrome 1CN028867OMIM4147
HP:0001252HP:0001252Muscular hypotonia0ARID1A82891465Coffin-Siris syndromeORPHA1388
HP:0001252HP:0001252Muscular hypotonia0ARID1B574921465Coffin-Siris syndromeORPHA139219
HP:0001252HP:0001252Muscular hypotonia0ARID1B57492135900Coffin-Siris syndrome 1CN029606OMIM139219
HP:0001252HP:0001252Muscular hypotonia0ARID1B57492614562Mental retardation, autosomal dominant 12C3281201OMIM139219
HP:0001252HP:0001252Muscular hypotonia0ARL13B200894475Acquired hypoprothrombinemiaORPHA962
HP:0001252HP:0001252Muscular hypotonia0ARL13B200894612291Joubert syndrome 8C2676771OMIM962
HP:0001252HP:0001252Muscular hypotonia0ARSA410250100Metachromatic leukodystrophyC0023522OMIM217253
HP:0001252HP:0001252Muscular hypotonia0ARVCF42156722q11.2 deletion syndromeORPHA11
HP:0001252HP:0001252Muscular hypotonia0ARX170302300215Lissencephaly 2, X-linkedC1846171OMIM82166
HP:0001252HP:0001252Muscular hypotonia0ARX170302452X-linked lissencephaly with abnormal genitaliaORPHA82166
HP:0001252HP:0001252Muscular hypotonia0ASCL142999803Haddad syndromeC1859587ORPHA615
HP:0001252HP:0001252Muscular hypotonia0ASPA443314911Severe Canavan diseaseORPHA10248
HP:0001252HP:0001252Muscular hypotonia0ASPA443271900Spongy degeneration of central nervous systemC0206307OMIM10248
HP:0001252HP:0001252Muscular hypotonia0ASXL1171023605039C-like syndromeC0796232OMIM28145
HP:0001252HP:0001252Muscular hypotonia0ATCAY85300601238Cerebellar ataxia, cayman typeC1832585OMIM272
HP:0001252HP:0001252Muscular hypotonia0ATIC471608688AICAR transformylase/IMP cyclohydrolase deficiencyC1837530OMIM24
HP:0001252HP:0001252Muscular hypotonia0ATP5A1498616045Combined oxidative phosphorylation deficiency 22C4015062OMIM325
HP:0001252HP:0001252Muscular hypotonia0ATP6V0A223545219200Cutis laxa with osteodystrophyC0268355OMIM53140
HP:0001252HP:0001252Muscular hypotonia0ATP6V0A223545278250Wrinkly skin syndromeC0406587OMIM53140
HP:0001252HP:0001252Muscular hypotonia0ATP7A538565Menkes diseaseORPHA337192
HP:0001252HP:0001252Muscular hypotonia0ATP84509480Acrorenal mandibular syndromeC1860166ORPHA
HP:0001252HP:0001252Muscular hypotonia0ATP8A2517611766Dysequilibrium syndromeORPHA624
HP:0001252HP:0001252Muscular hypotonia0ATPAF291647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1C2700431OMIM132
HP:0001252HP:0001252Muscular hypotonia0ATRX546847Alpha-thalassemia-X-linked intellectual disability syndromeORPHA152169
HP:0001252HP:0001252Muscular hypotonia0ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0001252HP:0001252Muscular hypotonia0ATXN26311183090Spinocerebellar ataxia 2C0752121OMIM3911
HP:0001252HP:0001252Muscular hypotonia0B3GALNT2148789588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA1343
HP:0001252HP:0001252Muscular hypotonia0B3GALT612679275496Ehlers-Danlos syndrome, progeroid typeORPHA2238
HP:0001252HP:0001252Muscular hypotonia0B3GALT6126792615349Ehlers-Danlos syndrome, progeroid type, 2C3809210OMIM2238
HP:0001252HP:0001252Muscular hypotonia0B3GALT6126792271640Spondyloepimetaphyseal dysplasia with joint laxityC0432243OMIM2238
HP:0001252HP:0001252Muscular hypotonia0B4GALT1268379332B4GALT1-CDGORPHA285
HP:0001252HP:0001252Muscular hypotonia0B4GALT12683607091Congenital disorder of glycosylation type 2DC1846816OMIM285
HP:0001252HP:0001252Muscular hypotonia0B4GALT711285130070Ehlers-Danlos syndrome progeroid typeC1869122OMIM829
HP:0001252HP:0001252Muscular hypotonia0B4GALT71128575496Ehlers-Danlos syndrome, progeroid typeORPHA829
HP:0001252HP:0001252Muscular hypotonia0B9D127077475Acquired hypoprothrombinemiaORPHA928
HP:0001252HP:0001252Muscular hypotonia0BAZ1B9031904Blepharophimosis nasal groove growth retardationORPHA2
HP:0001252HP:0001252Muscular hypotonia0BCKDHA593248600Maple syrup urine diseaseC0024776OMIM91120
HP:0001252HP:0001252Muscular hypotonia0BCKDHB594248600Maple syrup urine diseaseC0024776OMIM94162
HP:0001252HP:0001252Muscular hypotonia0BCOR54880309800Lenz microphthalmia syndromeC0796016OMIM45101
HP:0001252HP:0001252Muscular hypotonia0BCS1L617256000Leigh syndromeC0023264OMIM3772
HP:0001252HP:0001252Muscular hypotonia0BCS1L617124000Mitochondrial complex III deficiencyC1852372OMIM3772
HP:0001252HP:0001252Muscular hypotonia0BMP465226420014q22q23 microdeletion syndromeORPHA4338
HP:0001252HP:0001252Muscular hypotonia0BMPER168667608022DiaphanospondylodysostosisC1842691OMIM1378
HP:0001252HP:0001252Muscular hypotonia0BRAF673115150Cardiofaciocutaneous syndrome 1CN029449OMIM61276
HP:0001252HP:0001252Muscular hypotonia0BRAF6731340Chromosome 4, monosomy 4qC0265404ORPHA61276
HP:0001252HP:0001252Muscular hypotonia0BRAF673648Noonan syndromeORPHA61276
HP:0001252HP:0001252Muscular hypotonia0BRAF673613706Noonan syndrome 7C3150970OMIM61276
HP:0001252HP:0001252Muscular hypotonia0BRWD3254065300659Mental retardation, X-linked 93C1970841OMIM10104
HP:0001252HP:0001252Muscular hypotonia0BSND7809602522Bartter syndrome type 4C1865270OMIM2153
HP:0001252HP:0001252Muscular hypotonia0BTD686253260Biotinidase deficiencyC0220754OMIM233223
HP:0001252HP:0001252Muscular hypotonia0BTD68679241Biotinidase deficiencyORPHA233223
HP:0001252HP:0001252Muscular hypotonia0C12ORF57113246218340Temtamy syndromeC1857512OMIM413
HP:0001252HP:0001252Muscular hypotonia0C12ORF6591574613559Combined oxidative phosphorylation deficiency 7C3150801OMIM1040
HP:0001252HP:0001252Muscular hypotonia0C5ORF4265250475Acquired hypoprothrombinemiaORPHA97237
HP:0001252HP:0001252Muscular hypotonia0C5ORF4265250277170Orofaciodigital syndrome 6C2745997OMIM97237
HP:0001252HP:0001252Muscular hypotonia0CA87671766Dysequilibrium syndromeORPHA48
HP:0001252HP:0001252Muscular hypotonia0CAD790616457Congenital disorder of glycosylation type 1zC4225320OMIM910
HP:0001252HP:0001252Muscular hypotonia0CAMKMT798231636932p21 microdeletion syndromeORPHA1
HP:0001252HP:0001252Muscular hypotonia0CANT1124583251450Desbuquois dysplasia 1C4012146OMIM2585
HP:0001252HP:0001252Muscular hypotonia0CASR846417Aloi Tomasini Isaia syndromeORPHA395272
HP:0001252HP:0001252Muscular hypotonia0CASR846239200Neonatal severe hyperparathyroidismC1832615OMIM395272
HP:0001252HP:0001252Muscular hypotonia0CBL867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaC3150803OMIM34317
HP:0001252HP:0001252Muscular hypotonia0CC2D2A57545216360COACH syndromeC1857662OMIM83247
HP:0001252HP:0001252Muscular hypotonia0CC2D2A575451454Common atrioventricular canalC0221215ORPHA83247
HP:0001252HP:0001252Muscular hypotonia0CC2D2A575452318Joubert syndrome with oculorenal defectORPHA83247
HP:0001252HP:0001252Muscular hypotonia0CCDC22289527Acromicric dysplasiaC0265287ORPHA633
HP:0001252HP:0001252Muscular hypotonia0CCDC2228952300963Ritscher-schinzel syndrome 2C4225419OMIM633
HP:0001252HP:0001252Muscular hypotonia0CCDC78124093614807Myopathy, centronuclear, 4C3553709OMIM225
HP:0001252HP:0001252Muscular hypotonia0CD59966612300Cd59 deficiencyC2676767OMIM63
HP:0001252HP:0001252Muscular hypotonia0CD9610225211750C syndromeC0796095OMIM283
HP:0001252HP:0001252Muscular hypotonia0CD96102251308Chorioretinopathy dominant form microcephalyORPHA283
HP:0001252HP:0001252Muscular hypotonia0CDKL56792300672Early infantile epileptic encephalopathy 2C1839333OMIM275405
HP:0001252HP:0001252Muscular hypotonia0CDKN1C102885173IMAGe syndromeORPHA81114
HP:0001252HP:0001252Muscular hypotonia0CEP1049731475Acquired hypoprothrombinemiaORPHA45
HP:0001252HP:0001252Muscular hypotonia0CEP120153241475Acquired hypoprothrombinemiaORPHA97
HP:0001252HP:0001252Muscular hypotonia0CEP120153241220493Joubert syndrome with ocular defectORPHA97
HP:0001252HP:0001252Muscular hypotonia0CEP29080184610188Joubert syndrome 5C1857780OMIM265342
HP:0001252HP:0001252Muscular hypotonia0CEP290801842318Joubert syndrome with oculorenal defectORPHA265342
HP:0001252HP:0001252Muscular hypotonia0CEP2908018465Leber congenital amaurosisORPHA265342
HP:0001252HP:0001252Muscular hypotonia0CEP4195681475Acquired hypoprothrombinemiaORPHA1090
HP:0001252HP:0001252Muscular hypotonia0CEP4195681614464Joubert syndrome 15C3280897OMIM1090
HP:0001252HP:0001252Muscular hypotonia0CEP4195681220493Joubert syndrome with ocular defectORPHA1090
HP:0001252HP:0001252Muscular hypotonia0CFL21073610687Nemaline myopathy 7C1853154OMIM535
HP:0001252HP:0001252Muscular hypotonia0CHAMP1283489616579Mental retardation, autosomal dominant 40C4225275OMIM1516
HP:0001252HP:0001252Muscular hypotonia0CHD755636138CHARGE syndromeORPHA757515
HP:0001252HP:0001252Muscular hypotonia0CHL1107521620Cryptogenic Organizing PneumoniaORPHA119
HP:0001252HP:0001252Muscular hypotonia0CHRNB11140616313Myasthenic syndrome, congenital, 2a, slow-channelC4225374OMIM853
HP:0001252HP:0001252Muscular hypotonia0CHRNB11140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiencyC4225373OMIM853
HP:0001252HP:0001252Muscular hypotonia0CHRND1144616321Myasthenic syndrome, congenital, 3a, slow-channelC4225372OMIM2188
HP:0001252HP:0001252Muscular hypotonia0CHRND1144616322Myasthenic syndrome, congenital, 3b, fast-channelC4225371OMIM2188
HP:0001252HP:0001252Muscular hypotonia0CHRND1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiencyC4225370OMIM2188
HP:0001252HP:0001252Muscular hypotonia0CHRNE1145616324Myasthenic syndrome, congenital, 4b, fast-channelC4225369OMIM126139
HP:0001252HP:0001252Muscular hypotonia0CHRNE1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiencyC1837091OMIM126139
HP:0001252HP:0001252Muscular hypotonia0CHST14113189601776Ehlers-Danlos syndrome, musculocontractural typeC1866294OMIM2127
HP:0001252HP:0001252Muscular hypotonia0CLCNKA1187613090Bartter syndrome, type 4bC2751312OMIM49
HP:0001252HP:0001252Muscular hypotonia0CLCNKB1188613090Bartter syndrome, type 4bC2751312OMIM9927
HP:0001252HP:0001252Muscular hypotonia0CLIP27461904Blepharophimosis nasal groove growth retardationORPHA
HP:0001252HP:0001252Muscular hypotonia0CLPB815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaC4225393OMIM2138
HP:0001252HP:0001252Muscular hypotonia0CNTN41523301620Cryptogenic Organizing PneumoniaORPHA1653
HP:0001252HP:0001252Muscular hypotonia0CNTNAP185062680Hypomyelination neuropathy-arthrogryposis syndromeORPHA119
HP:0001252HP:0001252Muscular hypotonia0CNTNAP18506616286Lethal congenital contracture syndrome 7C4225386OMIM119
HP:0001252HP:0001252Muscular hypotonia0COA5493753220110Cytochrome-c oxidase deficiencyC0268237OMIM12
HP:0001252HP:0001252Muscular hypotonia0COA6388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4C4225304OMIM38
HP:0001252HP:0001252Muscular hypotonia0COG19382611209Congenital disorder of glycosylation type 2GC1970016OMIM252
HP:0001252HP:0001252Muscular hypotonia0COG510466613612Congenital disorder of glycosylation type 2iC3150876OMIM1079
HP:0001252HP:0001252Muscular hypotonia0COG79194979333COG7-CDGORPHA464
HP:0001252HP:0001252Muscular hypotonia0COG884342611182Congenital disorder of glycosylation type 2HC1970021OMIM539
HP:0001252HP:0001252Muscular hypotonia0COL12A11303616471Bethlem myopathy 2C4225313OMIM865
HP:0001252HP:0001252Muscular hypotonia0COL13A11305616720Myasthenic syndrome, congenital, 19C4225235OMIM26
HP:0001252HP:0001252Muscular hypotonia0COL1A11277130060Ehlers-Danlos syndrome, procollagen proteinase deficientC0268345OMIM916373
HP:0001252HP:0001252Muscular hypotonia0COL1A21278130060Ehlers-Danlos syndrome, procollagen proteinase deficientC0268345OMIM485243
HP:0001252HP:0001252Muscular hypotonia0COL2A11280183900Spondyloepiphyseal dysplasia congenitaC0038015OMIM541284
HP:0001252HP:0001252Muscular hypotonia0COLQ8292603034Endplate acetylcholinesterase deficiencyC1864233OMIM6790
HP:0001252HP:0001252Muscular hypotonia0COMT131256722q11.2 deletion syndromeORPHA116
HP:0001252HP:0001252Muscular hypotonia0COQ451117616276Coenzyme Q10 deficiency, primary, 7C4225392OMIM1224
HP:0001252HP:0001252Muscular hypotonia0COQ8A56997612016Coenzyme Q10 deficiency, primary, 4C2677589OMIM37136
HP:0001252HP:0001252Muscular hypotonia0COQ957017614654Coenzyme Q10 deficiency, primary, 5C3553374OMIM344
HP:0001252HP:0001252Muscular hypotonia0COX101352220110Cytochrome-c oxidase deficiencyC0268237OMIM1382
HP:0001252HP:0001252Muscular hypotonia0COX101352256000Leigh syndromeC0023264OMIM1382
HP:0001252HP:0001252Muscular hypotonia0COX1484987220110Cytochrome-c oxidase deficiencyC0268237OMIM14
HP:0001252HP:0001252Muscular hypotonia0COX151355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2C3554534OMIM5104
HP:0001252HP:0001252Muscular hypotonia0COX151355256000Leigh syndromeC0023264OMIM5104
HP:0001252HP:0001252Muscular hypotonia0COX20116228220110Cytochrome-c oxidase deficiencyC0268237OMIM125
HP:0001252HP:0001252Muscular hypotonia0COX6B11340220110Cytochrome-c oxidase deficiencyC0268237OMIM310
HP:0001252HP:0001252Muscular hypotonia0CPS11373147Macrocephaly, benign familialC0220690ORPHA261124
HP:0001252HP:0001252Muscular hypotonia0CPT1A1374156Carnitine palmitoyl transferase 1A deficiencyORPHA4399
HP:0001252HP:0001252Muscular hypotonia0CPT1A1374255120Carnitine palmitoyltransferase I deficiencyC0342789OMIM4399
HP:0001252HP:0001252Muscular hypotonia0CPT21376228308Carnitine palmitoyl transferase II deficiency, neonatal formORPHA104101
HP:0001252HP:0001252Muscular hypotonia0CRB12341865Leber congenital amaurosisORPHA303156
HP:0001252HP:0001252Muscular hypotonia0CRBN511851620Cryptogenic Organizing PneumoniaORPHA419
HP:0001252HP:0001252Muscular hypotonia0CREBBP1387180849Rubinstein-Taybi syndromeC0035934OMIM335291
HP:0001252HP:0001252Muscular hypotonia0CRX140665Leber congenital amaurosisORPHA92158
HP:0001252HP:0001252Muscular hypotonia0CSPP179848475Acquired hypoprothrombinemiaORPHA2557
HP:0001252HP:0001252Muscular hypotonia0CSPP179848615636Joubert syndrome 21C3810212OMIM2557
HP:0001252HP:0001252Muscular hypotonia0CTCF10664615502Mental retardation, autosomal dominant 21C3809686OMIM420
HP:0001252HP:0001252Muscular hypotonia0CTNNB11499615075Mental retardation, autosomal dominant 19C3554449OMIM3988
HP:0001252HP:0001252Muscular hypotonia0CTNND21501281Ramer Ladda syndromeORPHA3515
HP:0001252HP:0001252Muscular hypotonia0CUL4B8450300354Syndromic X-linked mental retardation, Cabezas typeC1845861OMIM3538
HP:0001252HP:0001252Muscular hypotonia0CWF19L155280616127Spinocerebellar ataxia, autosomal recessive 17C4015301OMIM49
HP:0001252HP:0001252Muscular hypotonia0CYP24A11591143880Idiopathic hypercalcemia of infancyC0268080OMIM4073
HP:0001252HP:0001252Muscular hypotonia0CYP27B11594264700Vitamin D-dependent rickets, type 1C0268689OMIM7741
HP:0001252HP:0001252Muscular hypotonia0CYP2R1120227600081Vitamin d hydroxylation-deficient rickets, type 1bC1838657OMIM55
HP:0001252HP:0001252Muscular hypotonia0D2HGDH728294600721D-2-hydroxyglutaric aciduria 1C3152055OMIM32102
HP:0001252HP:0001252Muscular hypotonia0DAG11605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9C4225291OMIM11108
HP:0001252HP:0001252Muscular hypotonia0DBT1629248600Maple syrup urine diseaseC0024776OMIM71156
HP:0001252HP:0001252Muscular hypotonia0DCHS18642601390OMIM1027
HP:0001252HP:0001252Muscular hypotonia0DCPS28960616459AL-RAQAD SYNDROMEC4085595OMIM25
HP:0001252HP:0001252Muscular hypotonia0DCX16412148Epidermolysis bullosa simplex, Ogna typeC0432317ORPHA138145
HP:0001252HP:0001252Muscular hypotonia0DDOST1650614507Congenital order of glycosylation type 1rC3281084OMIM262
HP:0001252HP:0001252Muscular hypotonia0DDR24921271665Spondylometaepiphyseal dysplasia short limb-hand typeC1849011OMIM745
HP:0001252HP:0001252Muscular hypotonia0DDX111663613398Warsaw breakage syndromeC3150658OMIM613
HP:0001252HP:0001252Muscular hypotonia0DDX3X1654300958Mental retardation, X-linked 102C4085582OMIM4357
HP:0001252HP:0001252Muscular hypotonia0DGCR148220192430Shprintzen syndromeC0220704OMIM1
HP:0001252HP:0001252Muscular hypotonia0DGCR29993192430Shprintzen syndromeC0220704OMIM1
HP:0001252HP:0001252Muscular hypotonia0DGCR68214192430Shprintzen syndromeC0220704OMIM3
HP:0001252HP:0001252Muscular hypotonia0DGCR854487192430Shprintzen syndromeC0220704OMIM1
HP:0001252HP:0001252Muscular hypotonia0DGUOK1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebralC3151513OMIM6057
HP:0001252HP:0001252Muscular hypotonia0DHCR71717818Smith-Lemli-Opitz syndromeORPHA198159
HP:0001252HP:0001252Muscular hypotonia0DHFR1719613839Megaloblastic anemia due to dihydrofolate reductase deficiencyC3151205OMIM67
HP:0001252HP:0001252Muscular hypotonia0DHTKD1555262047502-aminoadipic 2-oxoadipic aciduriaC1859817OMIM1612
HP:0001252HP:0001252Muscular hypotonia0DLD1738246900Maple syrup urine disease, type 3CN043137OMIM2289
HP:0001252HP:0001252Muscular hypotonia0DLG31741300850X-Linked mental retardation 90C3275443OMIM1330
HP:0001252HP:0001252Muscular hypotonia0DMD1756310200Duchenne muscular dystrophyC0013264OMIM35781496
HP:0001252HP:0001252Muscular hypotonia0DMPK1760160900Steinert myotonic dystrophy syndromeC0027126OMIM7152
HP:0001252HP:0001252Muscular hypotonia0DMPK1760273Wrinkly skin syndromeC0406587ORPHA7152
HP:0001252HP:0001252Muscular hypotonia0DNM11759616346Epileptic encephalopathy, early infantile, 31C4225357OMIM1772
HP:0001252HP:0001252Muscular hypotonia0DNM1L10059614388Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fissionC3280660OMIM1694
HP:0001252HP:0001252Muscular hypotonia0DNM21785615368Lethal congenital contracture syndrome 5C3809272OMIM45167
HP:0001252HP:0001252Muscular hypotonia0DOCK657572614219Adams-Oliver syndrome 2C3280182OMIM1918
HP:0001252HP:0001252Muscular hypotonia0DPAGT11798608093Congenital disorder of glycosylation type 1JC1842572OMIM2838
HP:0001252HP:0001252Muscular hypotonia0DPAGT11798614750Congenital myasthenic syndrome 13C3553645OMIM2838
HP:0001252HP:0001252Muscular hypotonia0DPAGT1179886309DPAGT1-CDGORPHA2838
HP:0001252HP:0001252Muscular hypotonia0DPM18813608799Congenital disorder of glycosylation type 1EC1837396OMIM927
HP:0001252HP:0001252Muscular hypotonia0DPM1881379322DPM1-CDGORPHA927
HP:0001252HP:0001252Muscular hypotonia0DPYD1806274270Dihydropyrimidine dehydrogenase deficiencyC2720286OMIM97144
HP:0001252HP:0001252Muscular hypotonia0DUOX25050695716Familial thyroid dyshormonogenesisORPHA130121
HP:0001252HP:0001252Muscular hypotonia0DUOXA240575395716Familial thyroid dyshormonogenesisORPHA1511
HP:0001252HP:0001252Muscular hypotonia0DYNC1H11778614563Mental retardation, autosomal dominant 13C3281202OMIM55427
HP:0001252HP:0001252Muscular hypotonia0EBP10682300960MEND syndromeC4085243OMIM8951
HP:0001252HP:0001252Muscular hypotonia0ECHS11892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiencyC4225391OMIM3033
HP:0001252HP:0001252Muscular hypotonia0EDNRB1910277580Waardenburg syndrome type 4AC1848519OMIM6755
HP:0001252HP:0001252Muscular hypotonia0EEF1A21917616409Epileptic encephalopathy, early infantile, 33C4225337OMIM1060
HP:0001252HP:0001252Muscular hypotonia0EEF1A21917616393Mental retardation, autosomal dominant 38C4225343OMIM1060
HP:0001252HP:0001252Muscular hypotonia0EFEMP230008614437Autosomal recessive cutis laxa type 1BC3280798OMIM1545
HP:0001252HP:0001252Muscular hypotonia0EFNB11947304110Craniofrontonasal dysplasiaC0220767OMIM11527
HP:0001252HP:0001252Muscular hypotonia0EFNB119471520Craniofrontonasal dysplasiaORPHA11527
HP:0001252HP:0001252Muscular hypotonia0EGR21959145900Dejerine-Sottas diseaseC0011195OMIM2358
HP:0001252HP:0001252Muscular hypotonia0EHMT179813610253Chromosome 9q deletion syndromeC0795833OMIM73223
HP:0001252HP:0001252Muscular hypotonia0EIF2AK394511667Dandy-Walker malformation with facial hemangiomaORPHA7465
HP:0001252HP:0001252Muscular hypotonia0EIF2B11967603896Leukoencephalopathy with vanishing white matterC1858991OMIM942
HP:0001252HP:0001252Muscular hypotonia0EIF2B28892603896Leukoencephalopathy with vanishing white matterC1858991OMIM2624
HP:0001252HP:0001252Muscular hypotonia0EIF2B38891603896Leukoencephalopathy with vanishing white matterC1858991OMIM2032
HP:0001252HP:0001252Muscular hypotonia0EIF2B48890603896Leukoencephalopathy with vanishing white matterC1858991OMIM3238
HP:0001252HP:0001252Muscular hypotonia0EIF2B58893603896Leukoencephalopathy with vanishing white matterC1858991OMIM9548
HP:0001252HP:0001252Muscular hypotonia0ELAC260528615440Combined oxidative phosphorylation deficiency 17C3809526OMIM1667
HP:0001252HP:0001252Muscular hypotonia0ELN2006904Blepharophimosis nasal groove growth retardationORPHA108172
HP:0001252HP:0001252Muscular hypotonia0ELN2006194050Williams syndromeC0175702OMIM108172
HP:0001252HP:0001252Muscular hypotonia0EP3002033180849Rubinstein-Taybi syndromeC0035934OMIM76250
HP:0001252HP:0001252Muscular hypotonia0EPCAM4072144Mac Dermot Winter syndromeC0796024ORPHA67170
HP:0001252HP:0001252Muscular hypotonia0EPG557724242840Absent corpus callosum cataract immunodeficiencyC1855772OMIM4540
HP:0001252HP:0001252Muscular hypotonia0EPG5577241493Congenital mesoblastic nephromaORPHA4540
HP:0001252HP:0001252Muscular hypotonia0ERCC120671466COFS syndromeORPHA720
HP:0001252HP:0001252Muscular hypotonia0ERCC220681466COFS syndromeORPHA94106
HP:0001252HP:0001252Muscular hypotonia0ERCC520731466COFS syndromeORPHA5383
HP:0001252HP:0001252Muscular hypotonia0ERCC62074214150Cerebro-oculo-facio-skeletal syndromeC0220722OMIM96199
HP:0001252HP:0001252Muscular hypotonia0ERCC620741466COFS syndromeORPHA96199
HP:0001252HP:0001252Muscular hypotonia0ERF20773267Familial lambdoid synostosisORPHA1312
HP:0001252HP:0001252Muscular hypotonia0ETFA2108231680Glutaric aciduria, type 2C0268596OMIM2837
HP:0001252HP:0001252Muscular hypotonia0ETFB2109231680Glutaric aciduria, type 2C0268596OMIM1327
HP:0001252HP:0001252Muscular hypotonia0ETFDH2110231680Glutaric aciduria, type 2C0268596OMIM16877
HP:0001252HP:0001252Muscular hypotonia0ETHE123474602473Ethylmalonic encephalopathyC1865349OMIM3442
HP:0001252HP:0001252Muscular hypotonia0EXT22132616682Seizures, scoliosis, and macrocephaly syndromeC4225248OMIM231102
HP:0001252HP:0001252Muscular hypotonia0EZH22146277590Weaver syndromeC0265210OMIM3781
HP:0001252HP:0001252Muscular hypotonia0FAN122909144Mac Dermot Winter syndromeC0796024ORPHA1915
HP:0001252HP:0001252Muscular hypotonia0FAR184188616154Peroxisomal fatty acyl-coa reductase 1 disorderC4015344OMIM37
HP:0001252HP:0001252Muscular hypotonia0FARS210667614946Combined oxidative phosphorylation deficiency 14C3554168OMIM1636
HP:0001252HP:0001252Muscular hypotonia0FASTKD222868220110Cytochrome-c oxidase deficiencyC0268237OMIM2122
HP:0001252HP:0001252Muscular hypotonia0FAT479633615546Van Maldergem syndrome 2C3809875OMIM20114
HP:0001252HP:0001252Muscular hypotonia0FBN12200284979Neonatal Marfan syndromeORPHA20671361
HP:0001252HP:0001252Muscular hypotonia0FBP12203229700Fructose-biphosphatase deficiencyC0016756OMIM4064
HP:0001252HP:0001252Muscular hypotonia0FBXL426235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)C3809592OMIM34384
HP:0001252HP:0001252Muscular hypotonia0FGFR3226115Antisocial personality disorderORPHA69145
HP:0001252HP:0001252Muscular hypotonia0FGFR322611860Thanatophoric dysplasia type 1ORPHA69145
HP:0001252HP:0001252Muscular hypotonia0FGFR32261187600Thanatophoric dysplasia type 1C1868678OMIM69145
HP:0001252HP:0001252Muscular hypotonia0FGFR3226193274Thanatophoric dysplasia type 2ORPHA69145
HP:0001252HP:0001252Muscular hypotonia0FH2271606812Fumarase deficiencyC0342770OMIM172301
HP:0001252HP:0001252Muscular hypotonia0FIG49896216340Yunis Varon syndromeC1857663OMIM58111
HP:0001252HP:0001252Muscular hypotonia0FKBP1455033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossC3281160OMIM413
HP:0001252HP:0001252Muscular hypotonia0FKRP79147588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA114157
HP:0001252HP:0001252Muscular hypotonia0FKTN2218588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA51184
HP:0001252HP:0001252Muscular hypotonia0FKTN2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4C2751052OMIM51184
HP:0001252HP:0001252Muscular hypotonia0FKTN2218253800Fukuyama congenital muscular dystrophyC0410174OMIM51184
HP:0001252HP:0001252Muscular hypotonia0FKTN2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4C1969040OMIM51184
HP:0001252HP:0001252Muscular hypotonia0FKTN2218272VACTERL hydrocephalyORPHA51184
HP:0001252HP:0001252Muscular hypotonia0FLII2314819Smith-Magenis syndromeORPHA
HP:0001252HP:0001252Muscular hypotonia0FMR12332908Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teethC0796094ORPHA8130
HP:0001252HP:0001252Muscular hypotonia0FMR12332261483Xq27.3q28 duplication syndromeORPHA8130
HP:0001252HP:0001252Muscular hypotonia0FOXG1229026114414q12 microdeletion syndromeORPHA116177
HP:0001252HP:0001252Muscular hypotonia0FOXRED155572256000Leigh syndromeC0023264OMIM761
HP:0001252HP:0001252Muscular hypotonia0FOXRED155572252010Mitochondrial complex I deficiencyC1838979OMIM761
HP:0001252HP:0001252Muscular hypotonia0FUCA12517349Neuroaxonal dystrophy renal tubular acidosisORPHA3243
HP:0001252HP:0001252Muscular hypotonia0GAA2548232300Glycogen storage disease, type IIC0017921OMIM510407
HP:0001252HP:0001252Muscular hypotonia0GABRA1255433069Dravet syndromeORPHA35134
HP:0001252HP:0001252Muscular hypotonia0GABRD256316061p36 deletion syndromeORPHA410
HP:0001252HP:0001252Muscular hypotonia0GABRG2256633069Dravet syndromeORPHA33139
HP:0001252HP:0001252Muscular hypotonia0GALC2581245200Galactosylceramide beta-galactosidase deficiencyC0023521OMIM230160
HP:0001252HP:0001252Muscular hypotonia0GALE2582230350UDPglucose-4-epimerase deficiencyC0751161OMIM2552
HP:0001252HP:0001252Muscular hypotonia0GATA12623190685Complete trisomy 21 syndromeC0013080OMIM1529
HP:0001252HP:0001252Muscular hypotonia0GBA262985212Fetal Gaucher diseaseORPHA460108
HP:0001252HP:0001252Muscular hypotonia0GBE12632232500Glycogen storage disease, type IVC0017923OMIM7086
HP:0001252HP:0001252Muscular hypotonia0GCDH2639231670Glutaric aciduria, type 1C0268595OMIM205115
HP:0001252HP:0001252Muscular hypotonia0GCDH263925Glutaryl-CoA dehydrogenase deficiencyORPHA205115
HP:0001252HP:0001252Muscular hypotonia0GCSH2653605899Non-ketotic hyperglycinemiaC0751748OMIM25
HP:0001252HP:0001252Muscular hypotonia0GDF639225565Leber congenital amaurosisORPHA1864
HP:0001252HP:0001252Muscular hypotonia0GFPT12673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiencyC1837091OMIM36128
HP:0001252HP:0001252Muscular hypotonia0GLDC2731605899Non-ketotic hyperglycinemiaC0751748OMIM415166
HP:0001252HP:0001252Muscular hypotonia0GLUL2752610015Glutamine deficiency, congenitalC1864910OMIM398
HP:0001252HP:0001252Muscular hypotonia0GM2A2760272750Tay-Sachs disease, variant ABC0268275OMIM969
HP:0001252HP:0001252Muscular hypotonia0GMPPB29925588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA2934
HP:0001252HP:0001252Muscular hypotonia0GMPPB29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14C3809221OMIM2934
HP:0001252HP:0001252Muscular hypotonia0GMPPB29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14C3714932OMIM2934
HP:0001252HP:0001252Muscular hypotonia0GNPAT8443222765Rhizomelic chondrodysplasia punctata type 2C1857242OMIM1558
HP:0001252HP:0001252Muscular hypotonia0GORAB923442078EEM syndromeC1857041ORPHA1352
HP:0001252HP:0001252Muscular hypotonia0GP1BB281256722q11.2 deletion syndromeORPHA538
HP:0001252HP:0001252Muscular hypotonia0GPC32719312870Simpson-Golabi-Behmel syndromeC0796154OMIM6973
HP:0001252HP:0001252Muscular hypotonia0GPC42239312870Simpson-Golabi-Behmel syndromeC0796154OMIM4
HP:0001252HP:0001252Muscular hypotonia0GPX42879250220Spondylometaphyseal dysplasia Sedaghatian typeC1855229OMIM43
HP:0001252HP:0001252Muscular hypotonia0GRID22895616204Spinocerebellar ataxia, autosomal recessive 18C4015505OMIM1418
HP:0001252HP:0001252Muscular hypotonia0GRIN2B2904616139Epileptic encephalopathy, early infantile, 27C4015316OMIM49274
HP:0001252HP:0001252Muscular hypotonia0GRM12911614831Spinocerebellar ataxia, autosomal recessive 13C3553816OMIM168
HP:0001252HP:0001252Muscular hypotonia0GTF2I2969904Blepharophimosis nasal groove growth retardationORPHA11
HP:0001252HP:0001252Muscular hypotonia0GTF2IRD19569904Blepharophimosis nasal groove growth retardationORPHA61
HP:0001252HP:0001252Muscular hypotonia0GTPBP384705616198Combined oxidative phosphorylation deficiency 23C4015447OMIM1430
HP:0001252HP:0001252Muscular hypotonia0GUCY2D300065Leber congenital amaurosisORPHA217124
HP:0001252HP:0001252Muscular hypotonia0GUSB2990584Al Gazali Donnai Mueller syndromeORPHA6354
HP:0001252HP:0001252Muscular hypotonia0HACD192002020Congenital fiber-type disproportion myopathyORPHA12
HP:0001252HP:0001252Muscular hypotonia0HADH3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenaseC1291230OMIM2641
HP:0001252HP:0001252Muscular hypotonia0HADHA3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyCN074230OMIM6899
HP:0001252HP:0001252Muscular hypotonia0HADHA3030609015Mitochondrial trifunctional protein deficiencyC0342786OMIM6899
HP:0001252HP:0001252Muscular hypotonia0HADHB3032609015Mitochondrial trifunctional protein deficiencyC0342786OMIM5760
HP:0001252HP:0001252Muscular hypotonia0HBA1303998791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16ORPHA199200
HP:0001252HP:0001252Muscular hypotonia0HBA2304098791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16ORPHA28088
HP:0001252HP:0001252Muscular hypotonia0HCFC13054309541Mental retardation 3, X-linkedC0796208OMIM15100
HP:0001252HP:0001252Muscular hypotonia0HDAC497591001Branchial arch defectsORPHA1433
HP:0001252HP:0001252Muscular hypotonia0HEPACAM220296613926Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardationC3151356OMIM2382
HP:0001252HP:0001252Muscular hypotonia0HERC28924615516Mental retardation, autosomal recessive 38C3809753OMIM438
HP:0001252HP:0001252Muscular hypotonia0HESX18820226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA2621
HP:0001252HP:0001252Muscular hypotonia0HEXA3073272800Tay-Sachs diseaseC0039373OMIM182152
HP:0001252HP:0001252Muscular hypotonia0HIBCH26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiencyC0342738OMIM1432
HP:0001252HP:0001252Muscular hypotonia0HIBCH2627588639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyORPHA1432
HP:0001252HP:0001252Muscular hypotonia0HIRA729056722q11.2 deletion syndromeORPHA23
HP:0001252HP:0001252Muscular hypotonia0HLCS314179242Holocarboxylase synthetase deficiencyORPHA46148
HP:0001252HP:0001252Muscular hypotonia0HLCS3141253270Holocarboxylase synthetase deficiencyC0268581OMIM46148
HP:0001252HP:0001252Muscular hypotonia0HNRNPK3190616580AU-KLINE SYNDROMEC4225274OMIM58
HP:0001252HP:0001252Muscular hypotonia0HPD32422118HawkinsinuriaORPHA923
HP:0001252HP:0001252Muscular hypotonia0HPRT13251300322Lesch-Nyhan syndromeC0023374OMIM42476
HP:0001252HP:0001252Muscular hypotonia0HRAS32652612Heart defect, tongue hamartoma and polysyndactylyORPHA28113
HP:0001252HP:0001252Muscular hypotonia0HSD17B1030283004382-methyl-3-hydroxybutyric aciduriaC1845517OMIM1319
HP:0001252HP:0001252Muscular hypotonia0HSPD13329612233Leukodystrophy, hypomyelinating, 4C2677109OMIM546
HP:0001252HP:0001252Muscular hypotonia0HYLS1219844475Acquired hypoprothrombinemiaORPHA231
HP:0001252HP:0001252Muscular hypotonia0IDH23418613657D-2-hydroxyglutaric aciduria 2C3150909OMIM629
HP:0001252HP:0001252Muscular hypotonia0IDUA342593473Hurler syndromeORPHA249115
HP:0001252HP:0001252Muscular hypotonia0IFIH164135182250Singleton-Merten syndrome 1C4225427OMIM2028
HP:0001252HP:0001252Muscular hypotonia0IFT140974265Leber congenital amaurosisORPHA49148
HP:0001252HP:0001252Muscular hypotonia0IGF23481616489Growth restriction, severe, with distinctive faciesC4225307OMIM69
HP:0001252HP:0001252Muscular hypotonia0IKBKAP85181764Familial dysautonomiaORPHA4
HP:0001252HP:0001252Muscular hypotonia0IKBKAP8518223900Familial dysautonomiaC0013364OMIM4
HP:0001252HP:0001252Muscular hypotonia0IMPDH1361465Leber congenital amaurosisORPHA2052
HP:0001252HP:0001252Muscular hypotonia0INPP5E56623475Acquired hypoprothrombinemiaORPHA42111
HP:0001252HP:0001252Muscular hypotonia0INPP5E566231454Common atrioventricular canalC0221215ORPHA42111
HP:0001252HP:0001252Muscular hypotonia0INPP5E56623213300Joubert syndrome 1CN119531OMIM42111
HP:0001252HP:0001252Muscular hypotonia0INPP5E56623220493Joubert syndrome with ocular defectORPHA42111
HP:0001252HP:0001252Muscular hypotonia0INPPL136362746Hoyeraal syndromeORPHA2818
HP:0001252HP:0001252Muscular hypotonia0INPPL13636258480OpsismodysplasiaC0432219OMIM2818
HP:0001252HP:0001252Muscular hypotonia0IQCB1965765Leber congenital amaurosisORPHA3861
HP:0001252HP:0001252Muscular hypotonia0ISPD729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7C3553330OMIM44211
HP:0001252HP:0001252Muscular hypotonia0ITGA736792020Congenital fiber-type disproportion myopathyORPHA7127
HP:0001252HP:0001252Muscular hypotonia0ITGB636942850Alopecia-intellectual disability syndromeORPHA68
HP:0001252HP:0001252Muscular hypotonia0ITPR137081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA68177
HP:0001252HP:0001252Muscular hypotonia0IYD38943495716Familial thyroid dyshormonogenesisORPHA4130
HP:0001252HP:0001252Muscular hypotonia0JMJD1C22103756722q11.2 deletion syndromeORPHA262
HP:0001252HP:0001252Muscular hypotonia0KANK123189612900Cerebral palsy, spastic quadriplegic, 2C2752061OMIM1026
HP:0001252HP:0001252Muscular hypotonia0KAT6A7994616268Mental retardation, autosomal dominant 32C4225396OMIM1534
HP:0001252HP:0001252Muscular hypotonia0KAT6B23522606170Genitopatellar syndromeC1853566OMIM54141
HP:0001252HP:0001252Muscular hypotonia0KAT6B23522648Noonan syndromeORPHA54141
HP:0001252HP:0001252Muscular hypotonia0KCNAB2851416061p36 deletion syndromeORPHA31
HP:0001252HP:0001252Muscular hypotonia0KCNB13745616056Epileptic encephalopathy, early infantile, 26C4015119OMIM1165
HP:0001252HP:0001252Muscular hypotonia0KCNC33748605259Spinocerebellar ataxia 13C1854488OMIM817
HP:0001252HP:0001252Muscular hypotonia0KCNE52363086818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeORPHA45
HP:0001252HP:0001252Muscular hypotonia0KCNH13756611816Temple-Baraitser syndromeC2678486OMIM1213
HP:0001252HP:0001252Muscular hypotonia0KCNH13756135500Zimmermann-Laband syndrome 1CN032818OMIM1213
HP:0001252HP:0001252Muscular hypotonia0KCNJ103766612780SeSAME syndromeC2748572OMIM27121
HP:0001252HP:0001252Muscular hypotonia0KCNJ13376965Leber congenital amaurosisORPHA1042
HP:0001252HP:0001252Muscular hypotonia0KCNK951305612292Birk Barel mental retardation dysmorphism syndromeC2676770OMIM24
HP:0001252HP:0001252Muscular hypotonia0KCNQ23785306Camptodactyly arthropathy coxa vara pericarditis syndromeC1859690ORPHA229528
HP:0001252HP:0001252Muscular hypotonia0KCNQ23785613720Early infantile epileptic encephalopathy 7C3150986OMIM229528
HP:0001252HP:0001252Muscular hypotonia0KCNQ33786306Camptodactyly arthropathy coxa vara pericarditis syndromeC1859690ORPHA17302
HP:0001252HP:0001252Muscular hypotonia0KCNT157582614959Early infantile epileptic encephalopathy 14C3554195OMIM31321
HP:0001252HP:0001252Muscular hypotonia0KDM6A74032322Kabuki syndromeORPHA4953
HP:0001252HP:0001252Muscular hypotonia0KDM6A7403147920Kabuki syndrome 1CN030661OMIM4953
HP:0001252HP:0001252Muscular hypotonia0KDM6A7403300867Kabuki syndrome 2C3275495OMIM4953
HP:0001252HP:0001252Muscular hypotonia0KIAA055623247475Acquired hypoprothrombinemiaORPHA21
HP:0001252HP:0001252Muscular hypotonia0KIAA05869786475Acquired hypoprothrombinemiaORPHA2824
HP:0001252HP:0001252Muscular hypotonia0KIF1A547201300Hereditary sensory and autonomic neuropathy type IIAC2752089OMIM33276
HP:0001252HP:0001252Muscular hypotonia0KIF1BP26128609460Goldberg-Shprintzen megacolon syndromeC1836123OMIM1028
HP:0001252HP:0001252Muscular hypotonia0KIF1BP2612866629Goldberg-Shprintzen megacolon syndromeORPHA1028
HP:0001252HP:0001252Muscular hypotonia0KIF223835603546Spondyloepimetaphyseal dysplasia with multiple dislocationsC1863732OMIM414
HP:0001252HP:0001252Muscular hypotonia0KMT2A4297605130Wiedemann-Steiner syndromeC1854630OMIM4191
HP:0001252HP:0001252Muscular hypotonia0KMT2D80852322Kabuki syndromeORPHA584660
HP:0001252HP:0001252Muscular hypotonia0KMT2D8085147920Kabuki syndrome 1CN030661OMIM584660
HP:0001252HP:0001252Muscular hypotonia0KPTN11133615637Mental retardation, autosomal recessive 41C3810225OMIM313
HP:0001252HP:0001252Muscular hypotonia0KRAS38451340Chromosome 4, monosomy 4qC0265404ORPHA40196
HP:0001252HP:0001252Muscular hypotonia0KRAS38452612Heart defect, tongue hamartoma and polysyndactylyORPHA40196
HP:0001252HP:0001252Muscular hypotonia0KRAS3845144Mac Dermot Winter syndromeC0796024ORPHA40196
HP:0001252HP:0001252Muscular hypotonia0KRAS3845648Noonan syndromeORPHA40196
HP:0001252HP:0001252Muscular hypotonia0L2HGDH7994479314L-2-hydroxyglutaric aciduriaORPHA7534
HP:0001252HP:0001252Muscular hypotonia0LAMA23908607855Merosin deficient congenital muscular dystrophyC1263858OMIM251411
HP:0001252HP:0001252Muscular hypotonia0LAMB13912615191Lissencephaly 5C3554657OMIM571
HP:0001252HP:0001252Muscular hypotonia0LAMB23913609049Pierson syndromeC1836876OMIM9892
HP:0001252HP:0001252Muscular hypotonia0LARGE19215588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA22136
HP:0001252HP:0001252Muscular hypotonia0LARGE19215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6C1837229OMIM22136
HP:0001252HP:0001252Muscular hypotonia0LARS51520615438Infantile liver failure syndrome 1C3809522OMIM470
HP:0001252HP:0001252Muscular hypotonia0LAS1L81887309585Wilson-Turner X-linked mental retardation syndromeC1839736OMIM38
HP:0001252HP:0001252Muscular hypotonia0LCA516769165Leber congenital amaurosisORPHA4670
HP:0001252HP:0001252Muscular hypotonia0LETM13954280Halal Setton Wang syndromeORPHA32
HP:0001252HP:0001252Muscular hypotonia0LHX38022226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA1651
HP:0001252HP:0001252Muscular hypotonia0LHX489884226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA2243
HP:0001252HP:0001252Muscular hypotonia0LIAS11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiencyC3280887OMIM531
HP:0001252HP:0001252Muscular hypotonia0LIFR3977601559Stuve-Wiedemann syndromeC0796176OMIM31144
HP:0001252HP:0001252Muscular hypotonia0LIMK13984904Blepharophimosis nasal groove growth retardationORPHA6
HP:0001252HP:0001252Muscular hypotonia0LINS155180614340Mental retardation, autosomal recessive 27C3280538OMIM525
HP:0001252HP:0001252Muscular hypotonia0LMBRD15578879284Methylmalonic acidemia with homocystinuria type cblFORPHA946
HP:0001252HP:0001252Muscular hypotonia0LMBRD155788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPEC1848578OMIM946
HP:0001252HP:0001252Muscular hypotonia0LMNA4000157973Congenital muscular dystrophy due to LMNA mutationORPHA495645
HP:0001252HP:0001252Muscular hypotonia0LONP193611458CODAS syndromeORPHA158
HP:0001252HP:0001252Muscular hypotonia0LONP19361600373CODAS syndromeC1838180OMIM158
HP:0001252HP:0001252Muscular hypotonia0LRAT922765Leber congenital amaurosisORPHA2062
HP:0001252HP:0001252Muscular hypotonia0LRP54041259770Osteoporosis with pseudogliomaC0432252OMIM169125
HP:0001252HP:0001252Muscular hypotonia0LRPPRC10128220111Leigh syndrome, French Canadian typeC1857355OMIM15191
HP:0001252HP:0001252Muscular hypotonia0LTC4S4056614037Leukotriene c4 synthase deficiencyC1855503OMIM61
HP:0001252HP:0001252Muscular hypotonia0LYRM790624615838Mitochondrial complex III deficiency, nuclear type 8C4014440OMIM710
HP:0001252HP:0001252Muscular hypotonia0LZTR18216648Noonan syndromeORPHA6043
HP:0001252HP:0001252Muscular hypotonia0MAG4099616680Spastic paraplegia 75, autosomal recessiveC4225250OMIM34
HP:0001252HP:0001252Muscular hypotonia0MAN2B14125248500Deficiency of alpha-mannosidaseC0024748OMIM140136
HP:0001252HP:0001252Muscular hypotonia0MANBA4126248510Beta-D-mannosidosisC0342849OMIM1855
HP:0001252HP:0001252Muscular hypotonia0MAP2K15604615279Cardiofaciocutaneous syndrome 3C3809006OMIM19134
HP:0001252HP:0001252Muscular hypotonia0MAP2K156041340Chromosome 4, monosomy 4qC0265404ORPHA19134
HP:0001252HP:0001252Muscular hypotonia0MAP2K25605615280Cardiofaciocutaneous syndrome 4C3809007OMIM33178
HP:0001252HP:0001252Muscular hypotonia0MAP2K256051340Chromosome 4, monosomy 4qC0265404ORPHA33178
HP:0001252HP:0001252Muscular hypotonia0MAPRE210982616734Skin creases, congenital symmetric circumferential, 2C4225225OMIM44
HP:0001252HP:0001252Muscular hypotonia0MARS292935616430Combined oxidative phosphorylation deficiency 25C4225329OMIM525
HP:0001252HP:0001252Muscular hypotonia0MBD5557772284022q23.1 microdeletion syndromeORPHA79252
HP:0001252HP:0001252Muscular hypotonia0MCCC1569222102003 Methylcrotonyl-CoA carboxylase 1 deficiencyCN028786OMIM10481
HP:0001252HP:0001252Muscular hypotonia0MCCC1569226Intellectual disability (mild)CN240508ORPHA10481
HP:0001252HP:0001252Muscular hypotonia0MCCC2640872102103-methylcrotonyl CoA carboxylase 2 deficiencyC1859499OMIM11377
HP:0001252HP:0001252Muscular hypotonia0MCCC2640876Intellectual disability (mild)CN240508ORPHA11377
HP:0001252HP:0001252Muscular hypotonia0MCOLN157192578Akesson syndromeORPHA3278
HP:0001252HP:0001252Muscular hypotonia0MCOLN157192252650Ganglioside sialidase deficiencyC0238286OMIM3278
HP:0001252HP:0001252Muscular hypotonia0MED129968776X-linked intellectual disability with marfanoid habitusORPHA20228
HP:0001252HP:0001252Muscular hypotonia0MED2581857616449Basel-Vanagaite-Smirin-Yosef syndromeC4225323OMIM443
HP:0001252HP:0001252Muscular hypotonia0MEF2C42082283845q14.3 microdeletion syndromeORPHA68132
HP:0001252HP:0001252Muscular hypotonia0MEF2C4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformationsC3150700OMIM68132
HP:0001252HP:0001252Muscular hypotonia0MKS154903475Acquired hypoprothrombinemiaORPHA48127
HP:0001252HP:0001252Muscular hypotonia0MKS154903220493Joubert syndrome with ocular defectORPHA48127
HP:0001252HP:0001252Muscular hypotonia0MLH14292144Mac Dermot Winter syndromeC0796024ORPHA11161819
HP:0001252HP:0001252Muscular hypotonia0MLH327030144Mac Dermot Winter syndromeC0796024ORPHA27131
HP:0001252HP:0001252Muscular hypotonia0MLXIPL51085194050Williams syndromeC0175702OMIM61
HP:0001252HP:0001252Muscular hypotonia0MLYCD23417248360Deficiency of malonyl-CoA decarboxylaseC0342793OMIM3780
HP:0001252HP:0001252Muscular hypotonia0MMAA166785251100Methylmalonic aciduria cblA typeC1855109OMIM52113
HP:0001252HP:0001252Muscular hypotonia0MMAB326625251110Methylmalonic aciduria cblB typeC1855102OMIM41127
HP:0001252HP:0001252Muscular hypotonia0MMACHC25974277400Methylmalonic acidemia with homocystinuriaC1848561OMIM90101
HP:0001252HP:0001252Muscular hypotonia0MMADHC27249277410Methylmalonic acidemia with homocystinuria cblDC1848552OMIM1350
HP:0001252HP:0001252Muscular hypotonia0MOGS7841606056Congenital disorder of glycosylation type 2BC1853736OMIM537
HP:0001252HP:0001252Muscular hypotonia0MORC222880616688Charcot-Marie-Tooth disease, axonal, type 2zC4225243OMIM98
HP:0001252HP:0001252Muscular hypotonia0MPC151660614741Mitochondrial pyruvate carrier deficiencyC3553607OMIM26
HP:0001252HP:0001252Muscular hypotonia0MPDU19526609180Congenital disorder of glycosylation type 1FC1836669OMIM532
HP:0001252HP:0001252Muscular hypotonia0MPDU1952679323MPDU1-CDGORPHA532
HP:0001252HP:0001252Muscular hypotonia0MPI4351602579Congenital disorder of glycosylation type 1BC1865145OMIM1951
HP:0001252HP:0001252Muscular hypotonia0MPV174358256810Navajo neurohepatopathyC1850406OMIM4056
HP:0001252HP:0001252Muscular hypotonia0MPZ4359145900Dejerine-Sottas diseaseC0011195OMIM237134
HP:0001252HP:0001252Muscular hypotonia0MSH24436144Mac Dermot Winter syndromeC0796024ORPHA11382162
HP:0001252HP:0001252Muscular hypotonia0MSH62956144Mac Dermot Winter syndromeC0796024ORPHA4622232
HP:0001252HP:0001252Muscular hypotonia0MTM14534596Albright like syndromeORPHA289185
HP:0001252HP:0001252Muscular hypotonia0MTO125821614702Combined oxidative phosphorylation deficiency 10C3553529OMIM1339
HP:0001252HP:0001252Muscular hypotonia0MTR4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPEC1855128OMIM41217
HP:0001252HP:0001252Muscular hypotonia0MTRR45522169Epilepsy with myoclono-astatic crisisORPHA3588
HP:0001252HP:0001252Muscular hypotonia0MTRR4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation typeC1856057OMIM3588
HP:0001252HP:0001252Muscular hypotonia0MTTP454714Bilateral squintCN228276ORPHA7281
HP:0001252HP:0001252Muscular hypotonia0MUSK4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyC4225368OMIM1772
HP:0001252HP:0001252Muscular hypotonia0MUT4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiencyC1855114OMIM341193
HP:0001252HP:0001252Muscular hypotonia0MUT459479312Vitamin B12-unresponsive methylmalonic acidemia type mut-ORPHA341193
HP:0001252HP:0001252Muscular hypotonia0MUT4594289916Vitamin B12-unresponsive methylmalonic acidemia type mut0ORPHA341193
HP:0001252HP:0001252Muscular hypotonia0MVK459829CHARGE associationC0265354ORPHA170150
HP:0001252HP:0001252Muscular hypotonia0MVK4598610377Mevalonic aciduriaC1959626OMIM170150
HP:0001252HP:0001252Muscular hypotonia0MYL246332020Congenital fiber-type disproportion myopathyORPHA59131
HP:0001252HP:0001252Muscular hypotonia0MYO5A4644214450Griscelli syndrome type 1C1859194OMIM435
HP:0001252HP:0001252Muscular hypotonia0NAA108260309800Lenz microphthalmia syndromeC0796016OMIM923
HP:0001252HP:0001252Muscular hypotonia0NADK21336866160342,4-Dienoyl-CoA reductase deficiencyC1857252OMIM214
HP:0001252HP:0001252Muscular hypotonia0NAGA466879279Alpha-N-acetylgalactosaminidase deficiency type 1ORPHA747
HP:0001252HP:0001252Muscular hypotonia0NAGA4668609241Schindler disease, type 1C1836544OMIM747
HP:0001252HP:0001252Muscular hypotonia0NALCN259232616266Congenital contractures of the limbs and face, hypotonia, and developmental delayC4225398OMIM3148
HP:0001252HP:0001252Muscular hypotonia0NANS54187610442Spondyloepimetaphyseal dysplasia Genevieve typeC1864872OMIM128
HP:0001252HP:0001252Muscular hypotonia0NARS279731616239Combined oxidative phosphorylation deficiency 24C4015643OMIM634
HP:0001252HP:0001252Muscular hypotonia0NBAS51594614800Short stature, optic nerve atrophy, and pelger-huet anomalyC3541319OMIM2825
HP:0001252HP:0001252Muscular hypotonia0NDST13340616116Mental retardation, autosomal recessive 46C4015283OMIM627
HP:0001252HP:0001252Muscular hypotonia0NDUFA14694252010Mitochondrial complex I deficiencyC1838979OMIM57
HP:0001252HP:0001252Muscular hypotonia0NDUFA104705256000Leigh syndromeC0023264OMIM591
HP:0001252HP:0001252Muscular hypotonia0NDUFA11126328252010Mitochondrial complex I deficiencyC1838979OMIM132
HP:0001252HP:0001252Muscular hypotonia0NDUFA1255967256000Leigh syndromeC0023264OMIM17
HP:0001252HP:0001252Muscular hypotonia0NDUFA24695256000Leigh syndromeC0023264OMIM419
HP:0001252HP:0001252Muscular hypotonia0NDUFA94704256000Leigh syndromeC0023264OMIM127
HP:0001252HP:0001252Muscular hypotonia0NDUFAF151103252010Mitochondrial complex I deficiencyC1838979OMIM740
HP:0001252HP:0001252Muscular hypotonia0NDUFAF291942256000Leigh syndromeC0023264OMIM826
HP:0001252HP:0001252Muscular hypotonia0NDUFAF291942252010Mitochondrial complex I deficiencyC1838979OMIM826
HP:0001252HP:0001252Muscular hypotonia0NDUFAF325915252010Mitochondrial complex I deficiencyC1838979OMIM531
HP:0001252HP:0001252Muscular hypotonia0NDUFAF429078252010Mitochondrial complex I deficiencyC1838979OMIM250
HP:0001252HP:0001252Muscular hypotonia0NDUFAF579133252010Mitochondrial complex I deficiencyC1838979OMIM1034
HP:0001252HP:0001252Muscular hypotonia0NDUFAF6137682256000Leigh syndromeC0023264OMIM839
HP:0001252HP:0001252Muscular hypotonia0NDUFB34709252010Mitochondrial complex I deficiencyC1838979OMIM29
HP:0001252HP:0001252Muscular hypotonia0NDUFB94715252010Mitochondrial complex I deficiencyC1838979OMIM216
HP:0001252HP:0001252Muscular hypotonia0NDUFS14719252010Mitochondrial complex I deficiencyC1838979OMIM1981
HP:0001252HP:0001252Muscular hypotonia0NDUFS24720252010Mitochondrial complex I deficiencyC1838979OMIM2265
HP:0001252HP:0001252Muscular hypotonia0NDUFS34722256000Leigh syndromeC0023264OMIM322
HP:0001252HP:0001252Muscular hypotonia0NDUFS34722252010Mitochondrial complex I deficiencyC1838979OMIM322
HP:0001252HP:0001252Muscular hypotonia0NDUFS44724256000Leigh syndromeC0023264OMIM1627
HP:0001252HP:0001252Muscular hypotonia0NDUFS44724252010Mitochondrial complex I deficiencyC1838979OMIM1627
HP:0001252HP:0001252Muscular hypotonia0NDUFS64726252010Mitochondrial complex I deficiencyC1838979OMIM421
HP:0001252HP:0001252Muscular hypotonia0NDUFS7374291256000Leigh syndromeC0023264OMIM838
HP:0001252HP:0001252Muscular hypotonia0NDUFS84728256000Leigh syndromeC0023264OMIM1242
HP:0001252HP:0001252Muscular hypotonia0NDUFV14723252010Mitochondrial complex I deficiencyC1838979OMIM3274
HP:0001252HP:0001252Muscular hypotonia0NDUFV24729252010Mitochondrial complex I deficiencyC1838979OMIM427
HP:0001252HP:0001252Muscular hypotonia0NELFA7469280Halal Setton Wang syndromeORPHA4
HP:0001252HP:0001252Muscular hypotonia0NEU14758812Sialidosis type 1ORPHA5943
HP:0001252HP:0001252Muscular hypotonia0NEU14758256550Sialidosis, type IIC0268226OMIM5943
HP:0001252HP:0001252Muscular hypotonia0NFIX4784602535Marshall-Smith syndromeC0265211OMIM5140
HP:0001252HP:0001252Muscular hypotonia0NGLY155768615273Congenital disorder of deglycosylationC3808991OMIM2232
HP:0001252HP:0001252Muscular hypotonia0NKX2-17080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distressC1970269OMIM12451
HP:0001252HP:0001252Muscular hypotonia0NKX2-5148295713AthyreosisORPHA10390
HP:0001252HP:0001252Muscular hypotonia0NKX2-5148295712Thyroid ectopiaORPHA10390
HP:0001252HP:0001252Muscular hypotonia0NMNAT16480265Leber congenital amaurosisORPHA6815
HP:0001252HP:0001252Muscular hypotonia0NOTCH34854130720Lehman syndromeC1851710OMIM327144
HP:0001252HP:0001252Muscular hypotonia0NPC14864257220Niemann-Pick disease type C1C3179455OMIM445258
HP:0001252HP:0001252Muscular hypotonia0NPC210577607625Niemann-Pick disease type C2C1843366OMIM2733
HP:0001252HP:0001252Muscular hypotonia0NPHP14867609583Joubert syndrome 4C1846790OMIM6985
HP:0001252HP:0001252Muscular hypotonia0NPHP14867220497Joubert syndrome with renal defectORPHA6985
HP:0001252HP:0001252Muscular hypotonia0NRAS48932612Heart defect, tongue hamartoma and polysyndactylyORPHA9102
HP:0001252HP:0001252Muscular hypotonia0NRAS4893648Noonan syndromeORPHA9102
HP:0001252HP:0001252Muscular hypotonia0NRXN19378614325Pitt-Hopkins-like syndrome 2C3280479OMIM296470
HP:0001252HP:0001252Muscular hypotonia0NSD164324821Bardet-Biedl syndrome 2C2936863ORPHA468544
HP:0001252HP:0001252Muscular hypotonia0NSD27468280Halal Setton Wang syndromeORPHA7118
HP:0001252HP:0001252Muscular hypotonia0NUBPL80224252010Mitochondrial complex I deficiencyC1838979OMIM989
HP:0001252HP:0001252Muscular hypotonia0OFD18481300209Simpson-Golabi-Behmel syndrome, type 2C1846175OMIM155201
HP:0001252HP:0001252Muscular hypotonia0OGDH4967203740Alpha-ketoglutarate dehydrogenase deficiencyC2752074OMIM
HP:0001252HP:0001252Muscular hypotonia0OPHN14983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearanceC1845366OMIM3455
HP:0001252HP:0001252Muscular hypotonia0OPHN14983137831X-linked intellectual disability-cerebellar hypoplasia syndromeORPHA3455
HP:0001252HP:0001252Muscular hypotonia0ORAI184876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1C2748568OMIM1419
HP:0001252HP:0001252Muscular hypotonia0OTX25015610125Microphthalmia syndromic 5C1864690OMIM6541
HP:0001252HP:0001252Muscular hypotonia0P4HB50342050Ectodermal dysplasia Margarita typeORPHA102
HP:0001252HP:0001252Muscular hypotonia0PAFAH1B1504821738517p13.3 microduplication syndromeORPHA165231
HP:0001252HP:0001252Muscular hypotonia0PAX650801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA474194
HP:0001252HP:0001252Muscular hypotonia0PAX8784995713AthyreosisORPHA3863
HP:0001252HP:0001252Muscular hypotonia0PAX87849218700Thyroid agenesisC1563716OMIM3863
HP:0001252HP:0001252Muscular hypotonia0PAX8784995712Thyroid ectopiaORPHA3863
HP:0001252HP:0001252Muscular hypotonia0PAX8784995720Thyroid hypoplasiaORPHA3863
HP:0001252HP:0001252Muscular hypotonia0PC5091266150Pyruvate carboxylase deficiencyC0034341OMIM39118
HP:0001252HP:0001252Muscular hypotonia0PCBD15092264070Hyperphenylalaninemia, BH4-deficient, DC1849700OMIM1124
HP:0001252HP:0001252Muscular hypotonia0PCDH195752633069Dravet syndromeORPHA154225
HP:0001252HP:0001252Muscular hypotonia0PDHA15160312170Pyruvate dehydrogenase E1-alpha deficiencyC1839414OMIM16888
HP:0001252HP:0001252Muscular hypotonia0PDP154704608782Pyruvate dehydrogenase phosphatase deficiencyC1837429OMIM252
HP:0001252HP:0001252Muscular hypotonia0PET100100131801220110Cytochrome-c oxidase deficiencyC0268237OMIM26
HP:0001252HP:0001252Muscular hypotonia0PEX1518944Haim-Munk syndromeC1855627ORPHA123169
HP:0001252HP:0001252Muscular hypotonia0PEX15189772Infantile Refsum diseaseORPHA123169
HP:0001252HP:0001252Muscular hypotonia0PEX15189214100Zellweger syndromeC0043459OMIM123169
HP:0001252HP:0001252Muscular hypotonia0PEX10519244Haim-Munk syndromeC1855627ORPHA3075
HP:0001252HP:0001252Muscular hypotonia0PEX105192772Infantile Refsum diseaseORPHA3075
HP:0001252HP:0001252Muscular hypotonia0PEX11B879944Haim-Munk syndromeC1855627ORPHA54
HP:0001252HP:0001252Muscular hypotonia0PEX11B8799772Infantile Refsum diseaseORPHA54
HP:0001252HP:0001252Muscular hypotonia0PEX12519344Haim-Munk syndromeC1855627ORPHA3465
HP:0001252HP:0001252Muscular hypotonia0PEX125193772Infantile Refsum diseaseORPHA3465
HP:0001252HP:0001252Muscular hypotonia0PEX125193266510Infantile Refsum's diseaseC0282527OMIM3465
HP:0001252HP:0001252Muscular hypotonia0PEX13519444Haim-Munk syndromeC1855627ORPHA1066
HP:0001252HP:0001252Muscular hypotonia0PEX135194772Infantile Refsum diseaseORPHA1066
HP:0001252HP:0001252Muscular hypotonia0PEX14519544Haim-Munk syndromeC1855627ORPHA446
HP:0001252HP:0001252Muscular hypotonia0PEX145195772Infantile Refsum diseaseORPHA446
HP:0001252HP:0001252Muscular hypotonia0PEX16940944Haim-Munk syndromeC1855627ORPHA1259
HP:0001252HP:0001252Muscular hypotonia0PEX169409772Infantile Refsum diseaseORPHA1259
HP:0001252HP:0001252Muscular hypotonia0PEX19582444Haim-Munk syndromeC1855627ORPHA362
HP:0001252HP:0001252Muscular hypotonia0PEX195824772Infantile Refsum diseaseORPHA362
HP:0001252HP:0001252Muscular hypotonia0PEX2582844Haim-Munk syndromeC1855627ORPHA1882
HP:0001252HP:0001252Muscular hypotonia0PEX25828772Infantile Refsum diseaseORPHA1882
HP:0001252HP:0001252Muscular hypotonia0PEX265567044Haim-Munk syndromeC1855627ORPHA23106
HP:0001252HP:0001252Muscular hypotonia0PEX2655670772Infantile Refsum diseaseORPHA23106
HP:0001252HP:0001252Muscular hypotonia0PEX3850444Haim-Munk syndromeC1855627ORPHA747
HP:0001252HP:0001252Muscular hypotonia0PEX38504772Infantile Refsum diseaseORPHA747
HP:0001252HP:0001252Muscular hypotonia0PEX5583044Haim-Munk syndromeC1855627ORPHA1499
HP:0001252HP:0001252Muscular hypotonia0PEX55830772Infantile Refsum diseaseORPHA1499
HP:0001252HP:0001252Muscular hypotonia0PEX55830214110Peroxisome biogenesis disorder 2a (zellweger)C1859228OMIM1499
HP:0001252HP:0001252Muscular hypotonia0PEX6519044Haim-Munk syndromeC1855627ORPHA10498
HP:0001252HP:0001252Muscular hypotonia0PEX65190772Infantile Refsum diseaseORPHA10498
HP:0001252HP:0001252Muscular hypotonia0PEX75191773Refsum diseaseORPHA5272
HP:0001252HP:0001252Muscular hypotonia0PGAP227315614207Hyperphosphatasia with mental retardation syndrome 3C3280153OMIM78
HP:0001252HP:0001252Muscular hypotonia0PGAP393210615716Hyperphosphatasia with mental retardation syndrome 4C3810354OMIM1320
HP:0001252HP:0001252Muscular hypotonia0PGM35238615816Immunodeficiency 23C4014371OMIM1215
HP:0001252HP:0001252Muscular hypotonia0PHF684295301900Borjeson-Forssman-Lehmann syndromeC0265339OMIM2729
HP:0001252HP:0001252Muscular hypotonia0PHF684295127Summitt syndromeC1802405ORPHA2729
HP:0001252HP:0001252Muscular hypotonia0PHKB5257261750Glycogen storage disease IXbC1849812OMIM24101
HP:0001252HP:0001252Muscular hypotonia0PHKG25261613027Glycogen storage disease IXcC2751643OMIM3148
HP:0001252HP:0001252Muscular hypotonia0PHOX2B892999803Haddad syndromeC1859587ORPHA7186
HP:0001252HP:0001252Muscular hypotonia0PHYH5264773Refsum diseaseORPHA3745
HP:0001252HP:0001252Muscular hypotonia0PIEZO263895248700Marden-Walker syndromeC0796033OMIM2677
HP:0001252HP:0001252Muscular hypotonia0PIGL9487280000Zunich neuroectodermal syndromeC1848392OMIM736
HP:0001252HP:0001252Muscular hypotonia0PIGN23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1C3279775OMIM2537
HP:0001252HP:0001252Muscular hypotonia0PIGO84720614749Hyperphosphatasia with mental retardation syndrome 2C3553637OMIM984
HP:0001252HP:0001252Muscular hypotonia0PIGT51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3C3809356OMIM612
HP:0001252HP:0001252Muscular hypotonia0PIK3CA5290144Mac Dermot Winter syndromeC0796024ORPHA46162
HP:0001252HP:0001252Muscular hypotonia0PIK3CA5290602501Megalencephaly cutis marmorata telangiectatica congenitaC1865285OMIM46162
HP:0001252HP:0001252Muscular hypotonia0PIK3CA529060040Megalencephaly-capillary malformation-polymicrogyria syndromeORPHA46162
HP:0001252HP:0001252Muscular hypotonia0PLA2G6839835069Infantile neuroaxonal dystrophyORPHA155133
HP:0001252HP:0001252Muscular hypotonia0PLA2G68398256600Infantile neuroaxonal dystrophyC0270724OMIM155133
HP:0001252HP:0001252Muscular hypotonia0PLOD15351225400Ehlers-Danlos syndrome, hydroxylysine-deficientC0268342OMIM38105
HP:0001252HP:0001252Muscular hypotonia0PLP15354312080Pelizaeus-Merzbacher diseaseC0205711OMIM31660
HP:0001252HP:0001252Muscular hypotonia0PLXND123129570Moebius syndromeORPHA6
HP:0001252HP:0001252Muscular hypotonia0PMM25373212065Carbohydrate-deficient glycoprotein syndrome type IC0349653OMIM122150
HP:0001252HP:0001252Muscular hypotonia0PMP225376145900Dejerine-Sottas diseaseC0011195OMIM15679
HP:0001252HP:0001252Muscular hypotonia0PMPCA232031170Autosomal recessive cerebelloparenchymal disorder type 3ORPHA77
HP:0001252HP:0001252Muscular hypotonia0PMPCA23203213200Spinocerebellar ataxia, autosomal recessive 2C1859298OMIM77
HP:0001252HP:0001252Muscular hypotonia0PMS15378144Mac Dermot Winter syndromeC0796024ORPHA1156
HP:0001252HP:0001252Muscular hypotonia0PMS25395144Mac Dermot Winter syndromeC0796024ORPHA2841121
HP:0001252HP:0001252Muscular hypotonia0PNKP11284613402Early infantile epileptic encephalopathy 10C3150667OMIM16244
HP:0001252HP:0001252Muscular hypotonia0PNP4860613179Purine-nucleoside phosphorylase deficiencyC0268125OMIM3452
HP:0001252HP:0001252Muscular hypotonia0PNPLA257104610717Neutral lipid storage disease with myopathyC1853136OMIM4665
HP:0001252HP:0001252Muscular hypotonia0PNPLA6109081173CDG syndrome type 3ORPHA50103
HP:0001252HP:0001252Muscular hypotonia0PNPLA850640251950Mitochondrial myopathy with lactic acidosisC1855033OMIM43
HP:0001252HP:0001252Muscular hypotonia0POLG5428726Alpers-Huttenlocher syndromeORPHA277464
HP:0001252HP:0001252Muscular hypotonia0POLG5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE typeC3150914OMIM277464
HP:0001252HP:0001252Muscular hypotonia0POLG5428203700Progressive sclerosing poliodystrophyC0205710OMIM277464
HP:0001252HP:0001252Muscular hypotonia0POMGNT155624588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA73180
HP:0001252HP:0001252Muscular hypotonia0POMGNT284892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8C3553813OMIM933
HP:0001252HP:0001252Muscular hypotonia0POMT110585588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA83213
HP:0001252HP:0001252Muscular hypotonia0POMT229954588Coloboma of alar-nasal cartilages with telecanthusC1859964ORPHA51221
HP:0001252HP:0001252Muscular hypotonia0POMT229954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2C3150416OMIM51221
HP:0001252HP:0001252Muscular hypotonia0POU1F15449226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA4336
HP:0001252HP:0001252Muscular hypotonia0POU1F15449613038Pituitary hormone deficiency, combined 1C2751608OMIM4336
HP:0001252HP:0001252Muscular hypotonia0PPM1B54951636932p21 microdeletion syndromeORPHA
HP:0001252HP:0001252Muscular hypotonia0PPP2R1A5518616362Mental retardation, autosomal dominant 36C4225352OMIM413
HP:0001252HP:0001252Muscular hypotonia0PPT15538256730Ceroid lipofuscinosis neuronal 1C1850451OMIM77172
HP:0001252HP:0001252Muscular hypotonia0PRDM166397616061p36 deletion syndromeORPHA11148
HP:0001252HP:0001252Muscular hypotonia0PREPL95811636932p21 microdeletion syndromeORPHA87
HP:0001252HP:0001252Muscular hypotonia0PREPL9581163690Hypotonia-cystinuria syndromeORPHA87
HP:0001252HP:0001252Muscular hypotonia0PRF15551603553Hemophagocytic lymphohistiocytosis, familial, 2C1863727OMIM17058
HP:0001252HP:0001252Muscular hypotonia0PRODH5625239500Proline dehydrogenase deficiencyC0268529OMIM2613
HP:0001252HP:0001252Muscular hypotonia0PROP15626226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA3454
HP:0001252HP:0001252Muscular hypotonia0PRPS156311187Cerebellar agenesisORPHA2749
HP:0001252HP:0001252Muscular hypotonia0PRPS15631300661Phosphoribosylpyrophosphate synthetase superactivityC1970827OMIM2749
HP:0001252HP:0001252Muscular hypotonia0PRRT2112476306Camptodactyly arthropathy coxa vara pericarditis syndromeC1859690ORPHA9394
HP:0001252HP:0001252Muscular hypotonia0PRX57716145900Dejerine-Sottas diseaseC0011195OMIM52170
HP:0001252HP:0001252Muscular hypotonia0PSAP5660611721Combined saposin deficiencyC2673635OMIM2481
HP:0001252HP:0001252Muscular hypotonia0PSAP5660139406Encephalopathy due to prosaposin deficiencyORPHA2481
HP:0001252HP:0001252Muscular hypotonia0PSAP5660249900Sphingolipid activator protein 1 deficiencyC0268262OMIM2481
HP:0001252HP:0001252Muscular hypotonia0PTCH1572777301Monosomy 9q22.3ORPHA395665
HP:0001252HP:0001252Muscular hypotonia0PTDSS19791151050Lenz-Majewski hyperostosis syndromeC0432269OMIM56
HP:0001252HP:0001252Muscular hypotonia0PTEN5728153480Bannayan-Riley-Ruvalcaba syndromeC0265326OMIM582948
HP:0001252HP:0001252Muscular hypotonia0PTPN115781648Noonan syndromeORPHA133291
HP:0001252HP:0001252Muscular hypotonia0PTRH251651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onsetC4015728OMIM26
HP:0001252HP:0001252Muscular hypotonia0PURA5813616158Mental retardation, autosomal dominant 31C4015357OMIM2553
HP:0001252HP:0001252Muscular hypotonia0PUS1803242598Hard skin syndrome Parana typeC1850079ORPHA757
HP:0001252HP:0001252Muscular hypotonia0PYCR158312078EEM syndromeC1857041ORPHA3553
HP:0001252HP:0001252Muscular hypotonia0QARS5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyC4014239OMIM996
HP:0001252HP:0001252Muscular hypotonia0QDPR5860261630Dihydropteridine reductase deficiencyC0268465OMIM6143
HP:0001252HP:0001252Muscular hypotonia0RAB18229312510Micro syndromeORPHA585
HP:0001252HP:0001252Muscular hypotonia0RAB3GAP1229302510Micro syndromeORPHA5890
HP:0001252HP:0001252Muscular hypotonia0RAB3GAP122930600118Warburg micro syndrome 1C1838625OMIM5890
HP:0001252HP:0001252Muscular hypotonia0RAB3GAP2257822510Micro syndromeORPHA11135
HP:0001252HP:0001252Muscular hypotonia0RAF15894648Noonan syndromeORPHA43212
HP:0001252HP:0001252Muscular hypotonia0RAI110743171317p11.2 microduplication syndromeORPHA107150
HP:0001252HP:0001252Muscular hypotonia0RAI110743819Smith-Magenis syndromeORPHA107150
HP:0001252HP:0001252Muscular hypotonia0RAP1A59062322Kabuki syndromeORPHA1
HP:0001252HP:0001252Muscular hypotonia0RAP1B59082322Kabuki syndromeORPHA
HP:0001252HP:0001252Muscular hypotonia0RAPSN5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiencyC1837094OMIM5873
HP:0001252HP:0001252Muscular hypotonia0RARS257038611523Pontocerebellar hypoplasia type 6C1969084OMIM3393
HP:0001252HP:0001252Muscular hypotonia0RASA25922648Noonan syndromeORPHA33
HP:0001252HP:0001252Muscular hypotonia0RB159251587Craniosynostosis arthrogryposis cleft palateORPHA1077365
HP:0001252HP:0001252Muscular hypotonia0RBM108241311900TARP syndromeC1839463OMIM816
HP:0001252HP:0001252Muscular hypotonia0RD334303565Leber congenital amaurosisORPHA1395
HP:0001252HP:0001252Muscular hypotonia0RDH1214522665Leber congenital amaurosisORPHA9745
HP:0001252HP:0001252Muscular hypotonia0RERE47316061p36 deletion syndromeORPHA1216
HP:0001252HP:0001252Muscular hypotonia0RET597999803Haddad syndromeC1859587ORPHA415572
HP:0001252HP:0001252Muscular hypotonia0RET5979162300Multiple endocrine neoplasia, type 2bC0025269OMIM415572
HP:0001252HP:0001252Muscular hypotonia0RETREG154463201300Hereditary sensory and autonomic neuropathy type IIAC2752089OMIM554
HP:0001252HP:0001252Muscular hypotonia0REV3L5980570Moebius syndromeORPHA83
HP:0001252HP:0001252Muscular hypotonia0RFC25982904Blepharophimosis nasal groove growth retardationORPHA2
HP:0001252HP:0001252Muscular hypotonia0RFT191869612015Congenital disorder of glycosylation type 1NC2677590OMIM792
HP:0001252HP:0001252Muscular hypotonia0RFT191869244310RFT1-CDGORPHA792
HP:0001252HP:0001252Muscular hypotonia0RIN254453613075Macrocephaly, alopecia, cutis laxa, and scoliosisC2751321OMIM343
HP:0001252HP:0001252Muscular hypotonia0RIT16016648Noonan syndromeORPHA2339
HP:0001252HP:0001252Muscular hypotonia0RMRP6023175Cartilage-hair hypoplasiaORPHA12337
HP:0001252HP:0001252Muscular hypotonia0RNASEH2C84153610329Aicardi Goutieres syndrome 3C1835916OMIM1460
HP:0001252HP:0001252Muscular hypotonia0RNF12554941616260Tenorio syndromeC4015710OMIM45
HP:0001252HP:0001252Muscular hypotonia0RNF216544761173CDG syndrome type 3ORPHA1210
HP:0001252HP:0001252Muscular hypotonia0RNU4ATAC100151683616651Roifman syndromeC1846059OMIM1815
HP:0001252HP:0001252Muscular hypotonia0RPE65612165Leber congenital amaurosisORPHA181129
HP:0001252HP:0001252Muscular hypotonia0RPGRIP15709665Leber congenital amaurosisORPHA123109
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1L23322216360COACH syndromeC1857662OMIM46167
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1L233221454Common atrioventricular canalC0221215ORPHA46167
HP:0001252HP:0001252Muscular hypotonia0RPGRIP1L23322220497Joubert syndrome with renal defectORPHA46167
HP:0001252HP:0001252Muscular hypotonia0RPL106134435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeORPHA510
HP:0001252HP:0001252Muscular hypotonia0RPS6KA36197303600Coffin-Lowry syndromeC0265252OMIM16365
HP:0001252HP:0001252Muscular hypotonia0RPS6KA36197192Karandikar Maria Kamble syndromeORPHA16365
HP:0001252HP:0001252Muscular hypotonia0RPS6KA36197300844Mental retardation, X-linked 19C0796225OMIM16365
HP:0001252HP:0001252Muscular hypotonia0RREB1623956722q11.2 deletion syndromeORPHA11
HP:0001252HP:0001252Muscular hypotonia0RRM2B50484480Acrorenal mandibular syndromeC1860166ORPHA41125
HP:0001252HP:0001252Muscular hypotonia0RRM2B50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathyC2749861OMIM41125
HP:0001252HP:0001252Muscular hypotonia0RYR16261597Central core diseaseORPHA6021200
HP:0001252HP:0001252Muscular hypotonia0SARS254938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisC3151209OMIM460
HP:0001252HP:0001252Muscular hypotonia0SATB2233142510192q32q33 microdeletion syndromeORPHA3534
HP:0001252HP:0001252Muscular hypotonia0SC5D630946059LathosterolosisORPHA680
HP:0001252HP:0001252Muscular hypotonia0SCN1A632333069Dravet syndromeORPHA14431053
HP:0001252HP:0001252Muscular hypotonia0SCN1B632433069Dravet syndromeORPHA21126
HP:0001252HP:0001252Muscular hypotonia0SCN2A6326306Camptodactyly arthropathy coxa vara pericarditis syndromeC1859690ORPHA204427
HP:0001252HP:0001252Muscular hypotonia0SCN2A632633069Dravet syndromeORPHA204427
HP:0001252HP:0001252Muscular hypotonia0SCN8A6334306Camptodactyly arthropathy coxa vara pericarditis syndromeC1859690ORPHA65357
HP:0001252HP:0001252Muscular hypotonia0SCN8A6334614558Early infantile epileptic encephalopathy 13C3281191OMIM65357
HP:0001252HP:0001252Muscular hypotonia0SCN9A633533069Dravet syndromeORPHA106318
HP:0001252HP:0001252Muscular hypotonia0SCN9A6335201300Hereditary sensory and autonomic neuropathy type IIAC2752089OMIM106318
HP:0001252HP:0001252Muscular hypotonia0SCO16341220110Cytochrome-c oxidase deficiencyC0268237OMIM546
HP:0001252HP:0001252Muscular hypotonia0SCO29997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyC1858424OMIM3240
HP:0001252HP:0001252Muscular hypotonia0SDHA6389256000Leigh syndromeC0023264OMIM44304
HP:0001252HP:0001252Muscular hypotonia0SEC24C963256722q11.2 deletion syndromeORPHA
HP:0001252HP:0001252Muscular hypotonia0SEC24D98712050Ectodermal dysplasia Margarita typeORPHA115
HP:0001252HP:0001252Muscular hypotonia0SELENON571902020Congenital fiber-type disproportion myopathyORPHA59144
HP:0001252HP:0001252Muscular hypotonia0SELENON57190602771Eichsfeld type congenital muscular dystrophyC0410180OMIM59144
HP:0001252HP:0001252Muscular hypotonia0SEMA3E9723138CHARGE syndromeORPHA316
HP:0001252HP:0001252Muscular hypotonia0SEMA5A9037281Ramer Ladda syndromeORPHA76
HP:0001252HP:0001252Muscular hypotonia0SERAC1849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeC3553597OMIM2347
HP:0001252HP:0001252Muscular hypotonia0SETD229072821Bardet-Biedl syndrome 2C2936863ORPHA1060
HP:0001252HP:0001252Muscular hypotonia0SFXN4119559615578Combined oxidative phosphorylation deficiency 18C3810001OMIM417
HP:0001252HP:0001252Muscular hypotonia0SIK11500941935Early myoclonic encephalopathyORPHA611
HP:0001252HP:0001252Muscular hypotonia0SIL164374248800Marinesco-Sjögren syndromeC0024814OMIM4967
HP:0001252HP:0001252Muscular hypotonia0SIM164921718296q16 deletion syndromeORPHA4240
HP:0001252HP:0001252Muscular hypotonia0SIN3A25942613406Witteveen-kolk syndromeC3150674OMIM139
HP:0001252HP:0001252Muscular hypotonia0SIX36496157170Holoprosencephaly 2C1834877OMIM8232
HP:0001252HP:0001252Muscular hypotonia0SIX6499026420014q22q23 microdeletion syndromeORPHA920
HP:0001252HP:0001252Muscular hypotonia0SIX64990206900Microphthalmia syndromic 3C1859773OMIM920
HP:0001252HP:0001252Muscular hypotonia0SKI649716061p36 deletion syndromeORPHA20150
HP:0001252HP:0001252Muscular hypotonia0SKI6497182212Shprintzen-Goldberg syndromeC1321551OMIM20150
HP:0001252HP:0001252Muscular hypotonia0SLC17A526503604369Salla diseaseC1096903OMIM3478
HP:0001252HP:0001252Muscular hypotonia0SLC17A526503269920Sialic acid storage disease, severe infantile typeC1096902OMIM3478
HP:0001252HP:0001252Muscular hypotonia0SLC1A46509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephalyC4225254OMIM44
HP:0001252HP:0001252Muscular hypotonia0SLC22A56584212140Renal carnitine transport defectC0342788OMIM121207
HP:0001252HP:0001252Muscular hypotonia0SLC25A1510166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeC0268540OMIM3588
HP:0001252HP:0001252Muscular hypotonia0SLC25A196038699742Amish lethal microcephalyORPHA236
HP:0001252HP:0001252Muscular hypotonia0SLC25A20788212138Carnitine acylcarnitine translocase deficiencyC0342791OMIM4140
HP:0001252HP:0001252Muscular hypotonia0SLC25A22797511935Early myoclonic encephalopathyORPHA9166
HP:0001252HP:0001252Muscular hypotonia0SLC25A3525091130Cardiomyopathy-hypotonia-lactic acidosis syndromeORPHA535
HP:0001252HP:0001252Muscular hypotonia0SLC25A35250610773Mitochondrial phosphate carrier deficiencyC1835845OMIM535
HP:0001252HP:0001252Muscular hypotonia0SLC25A4691137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIBC4225302OMIM1114
HP:0001252HP:0001252Muscular hypotonia0SLC26A21836628Diastrophic dwarfismORPHA51166
HP:0001252HP:0001252Muscular hypotonia0SLC26A4517295713AthyreosisORPHA527274
HP:0001252HP:0001252Muscular hypotonia0SLC26A4517295720Thyroid hypoplasiaORPHA527274
HP:0001252HP:0001252Muscular hypotonia0SLC33A19197614482Congenital cataracts, hearing loss, and neurodegenerationC3280965OMIM748
HP:0001252HP:0001252Muscular hypotonia0SLC34A3142680241530Autosomal recessive hypophosphatemic bone diseaseC0342645OMIM3852
HP:0001252HP:0001252Muscular hypotonia0SLC35A27355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IImC3806688OMIM1427
HP:0001252HP:0001252Muscular hypotonia0SLC35A323443615553Arthrogryposis, mental retardation, and seizuresC3809910OMIM42
HP:0001252HP:0001252Muscular hypotonia0SLC35C155343266265Congenital disorder of glycosylation type 2CC0796132OMIM771
HP:0001252HP:0001252Muscular hypotonia0SLC39A864116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IInC4225234OMIM711
HP:0001252HP:0001252Muscular hypotonia0SLC3A165191636932p21 microdeletion syndromeORPHA17755
HP:0001252HP:0001252Muscular hypotonia0SLC3A16519163690Hypotonia-cystinuria syndromeORPHA17755
HP:0001252HP:0001252Muscular hypotonia0SLC46A1113235229050Congenital defect of folate absorptionC0342705OMIM20101
HP:0001252HP:0001252Muscular hypotonia0SLC52A279581614707Brown-Vialetto-Van Laere syndrome 2C3553538OMIM1647
HP:0001252HP:0001252Muscular hypotonia0SLC52A27958197229Riboflavin transporter deficiencyORPHA1647
HP:0001252HP:0001252Muscular hypotonia0SLC52A3113278211530Brown-Vialetto-Van Laere syndrome 1CN029849OMIM3151
HP:0001252HP:0001252Muscular hypotonia0SLC52A311327897229Riboflavin transporter deficiencyORPHA3151
HP:0001252HP:0001252Muscular hypotonia0SLC5A5652895716Familial thyroid dyshormonogenesisORPHA1559
HP:0001252HP:0001252Muscular hypotonia0SLC6A193400242116Encephalopathy-basal ganglia-calcificationORPHA2512
HP:0001252HP:0001252Muscular hypotonia0SLC6A8653552503X-linked creatine transporter deficiencyORPHA127122
HP:0001252HP:0001252Muscular hypotonia0SLC7A79056222700Lysinuric protein intoleranceC0268647OMIM66104
HP:0001252HP:0001252Muscular hypotonia0SLC9A610479300243Christianson syndromeC2678194OMIM1893
HP:0001252HP:0001252Muscular hypotonia0SMARCA465971465Coffin-Siris syndromeORPHA44617
HP:0001252HP:0001252Muscular hypotonia0SMARCB165981465Coffin-Siris syndromeORPHA11687
HP:0001252HP:0001252Muscular hypotonia0SMARCE166051465Coffin-Siris syndromeORPHA1147
HP:0001252HP:0001252Muscular hypotonia0SMPD16609257200Niemann-Pick disease, type AC0268242OMIM237164
HP:0001252HP:0001252Muscular hypotonia0SMS6611309583Snyder Robinson syndromeC0796160OMIM1019
HP:0001252HP:0001252Muscular hypotonia0SNAP299342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeC1836033OMIM1294
HP:0001252HP:0001252Muscular hypotonia0SNIP179753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphismC3281055OMIM13
HP:0001252HP:0001252Muscular hypotonia0SNX1457231616354Spinocerebellar ataxia, autosomal recessive 20C4225355OMIM1214
HP:0001252HP:0001252Muscular hypotonia0SOS16654648Noonan syndromeORPHA68315
HP:0001252HP:0001252Muscular hypotonia0SOS26655648Noonan syndromeORPHA630
HP:0001252HP:0001252Muscular hypotonia0SOX106663163746Neurologic Waardenburg-Shah syndromeORPHA13061
HP:0001252HP:0001252Muscular hypotonia0SOX1166641465Coffin-Siris syndromeORPHA1314
HP:0001252HP:0001252Muscular hypotonia0SOX26657206900Microphthalmia syndromic 3C1859773OMIM9733
HP:0001252HP:0001252Muscular hypotonia0SOX56660313892Developmental and speech delay due to SOX5 deficiencyORPHA2211
HP:0001252HP:0001252Muscular hypotonia0SOX96662114290Camptomelic dysplasiaC1861922OMIM139109
HP:0001252HP:0001252Muscular hypotonia0SPARC6678616507Osteogenesis imperfecta, type xviiC4225301OMIM42
HP:0001252HP:0001252Muscular hypotonia0SPATA75581265Leber congenital amaurosisORPHA2948
HP:0001252HP:0001252Muscular hypotonia0SPECC1L23384145410Opitz G/BBB syndromeC1801950OMIM66
HP:0001252HP:0001252Muscular hypotonia0SPRED1161742611431Legius syndromeC1969623OMIM71136
HP:0001252HP:0001252Muscular hypotonia0SPTAN16709613477Early infantile epileptic encephalopathy 5C3150731OMIM19416
HP:0001252HP:0001252Muscular hypotonia0SRD5A379644612379Congenital disorder of glycosylation type 1QC3150191OMIM1680
HP:0001252HP:0001252Muscular hypotonia0SSR46748300934Congenital disorder of glycosylation type 1yC4012395OMIM612
HP:0001252HP:0001252Muscular hypotonia0ST3GAL58869609056Amish infantile epilepsy syndromeC1836824OMIM447
HP:0001252HP:0001252Muscular hypotonia0STAMBP10617614261Microcephaly-capillary malformation syndromeC3280296OMIM1624
HP:0001252HP:0001252Muscular hypotonia0STIM16786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2C2748557OMIM2031
HP:0001252HP:0001252Muscular hypotonia0STRA664220601186Microphthalmia syndromic 9C1832661OMIM3171
HP:0001252HP:0001252Muscular hypotonia0STT3A3703615596Congenital disorder of glycosylation type 1wC3810062OMIM121
HP:0001252HP:0001252Muscular hypotonia0STT3B201595615597Congenital disorder of glycosylation type 1xC3810067OMIM218
HP:0001252HP:0001252Muscular hypotonia0STXBP1681233069Dravet syndromeORPHA168237
HP:0001252HP:0001252Muscular hypotonia0STXBP16812612164Early infantile epileptic encephalopathy 4C2677326OMIM168237
HP:0001252HP:0001252Muscular hypotonia0SUCLA28803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)C2749864OMIM2766
HP:0001252HP:0001252Muscular hypotonia0SUCLG18802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)C3151476OMIM2860
HP:0001252HP:0001252Muscular hypotonia0SURF16834256000Leigh syndromeC0023264OMIM9873
HP:0001252HP:0001252Muscular hypotonia0SYNGAP18831612621Mental retardation, autosomal dominant 5C2675473OMIM59108
HP:0001252HP:0001252Muscular hypotonia0SZT223334615476Early infantile epileptic encephalopathy 18C3809624OMIM8123
HP:0001252HP:0001252Muscular hypotonia0TACO151204220110Cytochrome-c oxidase deficiencyC0268237OMIM223
HP:0001252HP:0001252Muscular hypotonia0TBC1D201286372510Micro syndromeORPHA515
HP:0001252HP:0001252Muscular hypotonia0TBL226608904Blepharophimosis nasal groove growth retardationORPHA
HP:0001252HP:0001252Muscular hypotonia0TBX1689956722q11.2 deletion syndromeORPHA6532
HP:0001252HP:0001252Muscular hypotonia0TBX16899172722q11.2 microduplication syndromeORPHA6532
HP:0001252HP:0001252Muscular hypotonia0TBX16899192430Shprintzen syndromeC0220704OMIM6532
HP:0001252HP:0001252Muscular hypotonia0TCF46925610954Pitt-Hopkins syndromeC1970431OMIM132241
HP:0001252HP:0001252Muscular hypotonia0TCTN179600475Acquired hypoprothrombinemiaORPHA645
HP:0001252HP:0001252Muscular hypotonia0TCTN279867475Acquired hypoprothrombinemiaORPHA1376
HP:0001252HP:0001252Muscular hypotonia0TCTN279867616654Joubert syndrome 24C4084841OMIM1376
HP:0001252HP:0001252Muscular hypotonia0TECPR29895615031Spastic paraplegia 49, autosomal recessiveC3542549OMIM539
HP:0001252HP:0001252Muscular hypotonia0TG703895716Familial thyroid dyshormonogenesisORPHA111155
HP:0001252HP:0001252Muscular hypotonia0TGFBR27048144Mac Dermot Winter syndromeC0796024ORPHA132253
HP:0001252HP:0001252Muscular hypotonia0THOC257187300957Mental retardation, X-linked 12C0796218OMIM55
HP:0001252HP:0001252Muscular hypotonia0THRA706797927Peripheral resistance to thyroid hormonesORPHA149
HP:0001252HP:0001252Muscular hypotonia0THRB706897927Peripheral resistance to thyroid hormonesORPHA154161
HP:0001252HP:0001252Muscular hypotonia0TK27084609560Mitochondrial DNA depletion syndrome 2C3149750OMIM44103
HP:0001252HP:0001252Muscular hypotonia0TMEM126B55863252010Mitochondrial complex I deficiencyC1838979OMIM44
HP:0001252HP:0001252Muscular hypotonia0TMEM138515242318Joubert syndrome with oculorenal defectORPHA739
HP:0001252HP:0001252Muscular hypotonia0TMEM16555858614727Congenital disorder of glycosylation type 2kC3553571OMIM624
HP:0001252HP:0001252Muscular hypotonia0TMEM21651259608091Joubert syndrome 2C1842577OMIM845
HP:0001252HP:0001252Muscular hypotonia0TMEM216512592318Joubert syndrome with oculorenal defectORPHA845
HP:0001252HP:0001252Muscular hypotonia0TMEM231795832318Joubert syndrome with oculorenal defectORPHA1833
HP:0001252HP:0001252Muscular hypotonia0TMEM23765062475Acquired hypoprothrombinemiaORPHA1082
HP:0001252HP:0001252Muscular hypotonia0TMEM23765062614424Joubert syndrome 14C3280766OMIM1082
HP:0001252HP:0001252Muscular hypotonia0TMEM237650622318Joubert syndrome with oculorenal defectORPHA1082
HP:0001252HP:0001252Muscular hypotonia0TMEM23765062220497Joubert syndrome with renal defectORPHA1082
HP:0001252HP:0001252Muscular hypotonia0TMEM6791147475Acquired hypoprothrombinemiaORPHA148166
HP:0001252HP:0001252Muscular hypotonia0TMEM6791147216360COACH syndromeC1857662OMIM148166
HP:0001252HP:0001252Muscular hypotonia0TMEM67911471454Common atrioventricular canalC0221215ORPHA148166
HP:0001252HP:0001252Muscular hypotonia0TMEM6791147610688Joubert syndrome 6C1853153OMIM148166
HP:0001252HP:0001252Muscular hypotonia0TMEM7054968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2C3279699OMIM1863
HP:0001252HP:0001252Muscular hypotonia0TMEM70549681194TMEM70-related mitochondrial encephalo-cardio-myopathyORPHA1863
HP:0001252HP:0001252Muscular hypotonia0TNXB7148230839Ehlers-Danlos syndrome due to tenascin-X deficiencyORPHA34134
HP:0001252HP:0001252Muscular hypotonia0TOR1A1861128100Dystonia 1C1851945OMIM1447
HP:0001252HP:0001252Muscular hypotonia0TPI17167868Triose phosphate-isomerase deficiencyORPHA1928
HP:0001252HP:0001252Muscular hypotonia0TPI17167615512Triosephosphate isomerase deficiencyC1860808OMIM1928
HP:0001252HP:0001252Muscular hypotonia0TPK127010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)C3280866OMIM1121
HP:0001252HP:0001252Muscular hypotonia0TPM271692020Congenital fiber-type disproportion myopathyORPHA3854
HP:0001252HP:0001252Muscular hypotonia0TPM27169609285Nemaline myopathy 4C1836447OMIM3854
HP:0001252HP:0001252Muscular hypotonia0TPM371702020Congenital fiber-type disproportion myopathyORPHA27108
HP:0001252HP:0001252Muscular hypotonia0TPO717395716Familial thyroid dyshormonogenesisORPHA11792
HP:0001252HP:0001252Muscular hypotonia0TRAPPC1160684615356Limb-girdle muscular dystrophy, type 2SC3809236OMIM827
HP:0001252HP:0001252Muscular hypotonia0TRAPPC983696352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeORPHA10158
HP:0001252HP:0001252Muscular hypotonia0TRIM374591253250Mulibrey nanism syndromeC0524582OMIM1878
HP:0001252HP:0001252Muscular hypotonia0TRMT557570616539Combined oxidative phosphorylation deficiency 26C4225290OMIM34
HP:0001252HP:0001252Muscular hypotonia0TRMU55687613070Liver failure acute infantileC2751567OMIM16101
HP:0001252HP:0001252Muscular hypotonia0TRNL14567480Acrorenal mandibular syndromeC1860166ORPHA
HP:0001252HP:0001252Muscular hypotonia0TRNT151095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayC4015172OMIM2128
HP:0001252HP:0001252Muscular hypotonia0TRNW4578251900Mitochondrial myopathyC0162670OMIM
HP:0001252HP:0001252Muscular hypotonia0TRPS1722777258Trichorhinophalangeal syndrome type 1 and 3ORPHA136171
HP:0001252HP:0001252Muscular hypotonia0TRPV4593411216Autosomal dominant congenital benign spinal muscular atrophyORPHA71214
HP:0001252HP:0001252Muscular hypotonia0TSHB725290674Isolated thyroid-stimulating hormone deficiencyORPHA139
HP:0001252HP:0001252Muscular hypotonia0TSHB7252275100Secondary hypothyroidismC0271789OMIM139
HP:0001252HP:0001252Muscular hypotonia0TSHR725395713AthyreosisORPHA12997
HP:0001252HP:0001252Muscular hypotonia0TSHR725390673Hypothyroidism due to TSH receptor mutationsORPHA12997
HP:0001252HP:0001252Muscular hypotonia0TSHR725395720Thyroid hypoplasiaORPHA12997
HP:0001252HP:0001252Muscular hypotonia0TUBA1A7846611603Lissencephaly 3C1969029OMIM63106
HP:0001252HP:0001252Muscular hypotonia0TUBB2A7280615763Cortical dysplasia, complex, with other brain malformations 5C3810407OMIM423
HP:0001252HP:0001252Muscular hypotonia0TULP1728765Leber congenital amaurosisORPHA6966
HP:0001252HP:0001252Muscular hypotonia0TWNK56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)C1849096OMIM74113
HP:0001252HP:0001252Muscular hypotonia0UBA173171145Cataract and congenital ichthyosisC1859315ORPHA435
HP:0001252HP:0001252Muscular hypotonia0UBE3A733723844615q11q13 microduplication syndromeORPHA179278
HP:0001252HP:0001252Muscular hypotonia0UBE3A7337105830Angelman syndromeC0162635OMIM179278
HP:0001252HP:0001252Muscular hypotonia0UBE3B89910244450Kaufman oculocerebrofacial syndromeC1855663OMIM1613
HP:0001252HP:0001252Muscular hypotonia0UBR1197131243800Johanson-Blizzard syndromeC0175692OMIM6425
HP:0001252HP:0001252Muscular hypotonia0UFD1735356722q11.2 deletion syndromeORPHA4
HP:0001252HP:0001252Muscular hypotonia0UPF3B65109776X-linked intellectual disability with marfanoid habitusORPHA1633
HP:0001252HP:0001252Muscular hypotonia0UQCC3790955616111Mitochondrial complex III deficiency, nuclear type 9C4015253OMIM16
HP:0001252HP:0001252Muscular hypotonia0UQCRQ27089615159Mitochondrial complex III deficiency, nuclear type 4C3554607OMIM134
HP:0001252HP:0001252Muscular hypotonia0USP9X8239300919Mental retardation, X-linked 99C3806746OMIM2227
HP:0001252HP:0001252Muscular hypotonia0VARS257176615917Combined oxidative phosphorylation deficiency 20C4014660OMIM556
HP:0001252HP:0001252Muscular hypotonia0VDR7421277440Vitamin D-dependent rickets, type 2C0268690OMIM68104
HP:0001252HP:0001252Muscular hypotonia0VIPAS3963894613404Arthrogryposis, renal dysfunction, and cholestasis 2C3150672OMIM1227
HP:0001252HP:0001252Muscular hypotonia0VLDLR7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1CN074243OMIM27111
HP:0001252HP:0001252Muscular hypotonia0VLDLR74361766Dysequilibrium syndromeORPHA27111
HP:0001252HP:0001252Muscular hypotonia0VPS13A232302388Friedreich ataxia congenital glaucomaC1856688ORPHA113130
HP:0001252HP:0001252Muscular hypotonia0VPS13B157680193Opitz G/BBB syndromeC1801950ORPHA188546
HP:0001252HP:0001252Muscular hypotonia0VPS33B26276208085Arthrogryposis renal dysfunction cholestasis syndromeC1859722OMIM5563
HP:0001252HP:0001252Muscular hypotonia0VRK17443607596Pontocerebellar hypoplasia type 1AC1843504OMIM832
HP:0001252HP:0001252Muscular hypotonia0WASHC598977Acromicric dysplasiaC0265287ORPHA1683
HP:0001252HP:0001252Muscular hypotonia0WASHC59897220210Dandy-Walker like malformation with atrioventricular septal defectC0796137OMIM1683
HP:0001252HP:0001252Muscular hypotonia0WDR738494283472CAMOS syndromeORPHA1114
HP:0001252HP:0001252Muscular hypotonia0WDR7384942251300Galloway-Mowat syndromeC0795949OMIM1114
HP:0001252HP:0001252Muscular hypotonia0WDR811249971766Dysequilibrium syndromeORPHA327
HP:0001252HP:0001252Muscular hypotonia0WNK165125201300Hereditary sensory and autonomic neuropathy type IIAC2752089OMIM16199
HP:0001252HP:0001252Muscular hypotonia0YARS2510672598Hard skin syndrome Parana typeC1850079ORPHA1045
HP:0001252HP:0001252Muscular hypotonia0YWHAE753121738517p13.3 microduplication syndromeORPHA4214
HP:0001252HP:0001252Muscular hypotonia0ZBTB1810472612337Mental retardation, autosomal dominant 22C2676727OMIM2316
HP:0001252HP:0001252Muscular hypotonia0ZBTB2026137259050Primrose syndromeC0796121OMIM1117
HP:0001252HP:0001252Muscular hypotonia0ZDHHC951114776X-linked intellectual disability with marfanoid habitusORPHA1010
HP:0001252HP:0001252Muscular hypotonia0ZEB29839235730Mowat-Wilson syndromeC1856113OMIM248362
HP:0001252HP:0001252Muscular hypotonia0ZIC17545616602Craniosynostosis 6C4225269OMIM85
HP:0001252HP:0001252Muscular hypotonia0ZNF423230902318Joubert syndrome with oculorenal defectORPHA649
HP:0001252HP:0001252Muscular hypotonia0ZNF592964083472CAMOS syndromeORPHA14
HP:0001252HP:0001252Muscular hypotonia0ZNF5929640251300Galloway-Mowat syndromeC0795949OMIM14
HP:0001252HP:0031139Frog-leg posture1
HP:0001252HP:0012389Appendicular hypotonia1
HP:0001252HP:0030190Oral motor hypotonia1
HP:0001252HP:0006829Severe muscular hypotonia1ABAT18613163Gamma-aminobutyric acid transaminase deficiencyC0342708OMIM9120
HP:0001252HP:0008936Muscular hypotonia of the trunk1ABCC8683379134DEND syndromeORPHA612245
HP:0001252HP:0008936Muscular hypotonia of the trunk1ABCC86833606176Permanent neonatal diabetes mellitusC1833104OMIM612245
HP:0001252HP:0001319Neonatal hypotonia1ACOX151264470Pseudoneonatal adrenoleukodystrophyC1849678OMIM24120
HP:0001252HP:0001319Neonatal hypotonia1ACTA158255310Congenital myopathy with fiber type disproportionC0546264OMIM20596
HP:0001252HP:0001319Neonatal hypotonia1ACTA158161800Nemaline myopathy 3C1834336OMIM20596
HP:0001252HP:0001319Neonatal hypotonia1ACTA15897240Zebra body myopathyORPHA20596
HP:0001252HP:0001290Generalized hypotonia1ADSL1584646,XX testicular disorder of sex developmentC2936420ORPHA53118
HP:0001252HP:0001290Generalized hypotonia1AIFM19131238329Severe X-linked mitochondrial encephalomyopathyORPHA2360
HP:0001252HP:0006829Severe muscular hypotonia1AIFM19131238329Severe X-linked mitochondrial encephalomyopathyORPHA2360
HP:0001252HP:0008936Muscular hypotonia of the trunk1AIMP19255260600Leukodystrophy, hypomyelinating 3C1850053OMIM54
HP:0001252HP:0001319Neonatal hypotonia1ALG11440138613661Congenital disorder of glycosylation type 1PC3150913OMIM1241
HP:0001252HP:0001290Generalized hypotonia1ALG1379868324422ALG13-CDGORPHA696
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG310195601110Congenital disorder of glycosylation type 1DC1832736OMIM1437
HP:0001252HP:0008936Muscular hypotonia of the trunk1ALG629929603147Congenital disorder of glycosylation type 1CC1864178OMIM2666
HP:0001252HP:0008936Muscular hypotonia of the trunk1AMPD2271615809Pontocerebellar hypoplasia, type 9C4014354OMIM1221
HP:0001252HP:0001319Neonatal hypotonia1AP4B110717614066Spastic paraplegia 47, autosomal recessiveC3279738OMIM1049
HP:0001252HP:0000297Facial hypotonia1AP4E123431613744Spastic paraplegia 51, autosomal recessiveC3151056OMIM948
HP:0001252HP:0001319Neonatal hypotonia1AP4E123431613744Spastic paraplegia 51, autosomal recessiveC3151056OMIM948
HP:0001252HP:0001319Neonatal hypotonia1AP4M19179612936Spastic paraplegia 50, autosomal recessiveC2752008OMIM641
HP:0001252HP:0008936Muscular hypotonia of the trunk1ARX170302308350Epileptic encephalopathy, early infantile, 1C3463992OMIM82166
HP:0001252HP:0001319Neonatal hypotonia1ARX170302300004Proud Levine Carpenter syndromeC0796124OMIM82166
HP:0001252HP:0008936Muscular hypotonia of the trunk1ASNS440615574Asparagine synthetase deficiencyC3809971OMIM1317
HP:0001252HP:0008947Infantile muscular hypotonia1ATRX546301040ATR-X syndromeC1845055OMIM152169
HP:0001252HP:0008947Infantile muscular hypotonia1ATRX546309580Mental retardation-hypotonic facies syndrome X-linked, 1C0796003OMIM152169
HP:0001252HP:0006829Severe muscular hypotonia1B3GALNT2148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11C3554638OMIM1343
HP:0001252HP:0006829Severe muscular hypotonia1B4GAT111041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13C3809042OMIM517
HP:0001252HP:0001319Neonatal hypotonia1BIN1274255200Autosomal recessive centronuclear myopathyC0410204OMIM1699
HP:0001252HP:0006829Severe muscular hypotonia1BMP4652607932Microphthalmia syndromic 6C1864689OMIM4338
HP:0001252HP:0001319Neonatal hypotonia1BRAF673613707LEOPARD syndrome 3C3150971OMIM61276
HP:0001252HP:0001290Generalized hypotonia1BUB1B701257300Mosaic variegated aneuploidy syndromeC1850343OMIM2576
HP:0001252HP:0001319Neonatal hypotonia1CAMTA123261614756Cerebellar ataxia, nonprogressive, with mental retardationC3553661OMIM834
HP:0001252HP:0008936Muscular hypotonia of the trunk1CASK8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasiaC2677903OMIM83118
HP:0001252HP:0001290Generalized hypotonia1CASK8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasiaC2677903OMIM83118
HP:0001252HP:0006829Severe muscular hypotonia1CCDC88A55704260565PEHO syndromeC1850055OMIM11
HP:0001252HP:0001319Neonatal hypotonia1CHKB1120602541Muscular dystrophy, congenital, megaconial typeC1865233OMIM2353
HP:0001252HP:0008936Muscular hypotonia of the trunk1CHMP1A5119614961Pontocerebellar hypoplasia type 8C3554209OMIM219
HP:0001252HP:0001319Neonatal hypotonia1CHRNA11134608930Congenital myasthenic syndrome 1B, fast-channelC1837122OMIM3274
HP:0001252HP:0001319Neonatal hypotonia1CHRNB11140616313Myasthenic syndrome, congenital, 2a, slow-channelC4225374OMIM853
HP:0001252HP:0001319Neonatal hypotonia1CHRNB11140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiencyC4225373OMIM853
HP:0001252HP:0001319Neonatal hypotonia1CHRND1144616321Myasthenic syndrome, congenital, 3a, slow-channelC4225372OMIM2188
HP:0001252HP:0001319Neonatal hypotonia1CHRND1144616322Myasthenic syndrome, congenital, 3b, fast-channelC4225371OMIM2188
HP:0001252HP:0001290Generalized hypotonia1CHRNE1145605809Myasthenic syndrome, congenital, 4a, slow-channelC1853949OMIM126139
HP:0001252HP:0001319Neonatal hypotonia1CHRNE1145616324Myasthenic syndrome, congenital, 4b, fast-channelC4225369OMIM126139
HP:0001252HP:0001319Neonatal hypotonia1CLPB815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaC4225393OMIM2138
HP:0001252HP:0001319Neonatal hypotonia1CNTN11272612540Myopathy, congenital, compton-northC2675527OMIM240
HP:0001252HP:0008936Muscular hypotonia of the trunk1COG425839613489Congenital disorder of glycosylation type 2JC3150736OMIM467
HP:0001252HP:0008947Infantile muscular hypotonia1COL1A11277130000Ehlers-Danlos syndrome, classic typeC0268335OMIM916373
HP:0001252HP:0008936Muscular hypotonia of the trunk1COL4A3BP10087616351Mental retardation, autosomal dominant 34C4225156OMIM54
HP:0001252HP:0008947Infantile muscular hypotonia1COL5A11289130000Ehlers-Danlos syndrome, classic typeC0268335OMIM136660
HP:0001252HP:0008947Infantile muscular hypotonia1COL5A21290130000Ehlers-Danlos syndrome, classic typeC0268335OMIM23325
HP:0001252HP:0001319Neonatal hypotonia1COL6A11291158810Bethlem myopathy 1CN029274OMIM108442
HP:0001252HP:0001319Neonatal hypotonia1COL6A11291254090Ullrich congenital muscular dystrophy 1CN033863OMIM108442
HP:0001252HP:0001319Neonatal hypotonia1COL6A21292158810Bethlem myopathy 1CN029274OMIM144478
HP:0001252HP:0001319Neonatal hypotonia1COL6A21292254090Ullrich congenital muscular dystrophy 1CN033863OMIM144478
HP:0001252HP:0001319Neonatal hypotonia1COL6A31293158810Bethlem myopathy 1CN029274OMIM112702
HP:0001252HP:0001319Neonatal hypotonia1COL6A31293254090Ullrich congenital muscular dystrophy 1CN033863OMIM112702
HP:0001252HP:0001290Generalized hypotonia1CPLX1108151941904p partial monosomy syndromeC1956097OMIM11
HP:0001252HP:0001319Neonatal hypotonia1CPT21376608836Carnitine palmitoyltransferase II deficiency, lethal neonatalC1833518OMIM104101
HP:0001252HP:0001290Generalized hypotonia1CTBP114871941904p partial monosomy syndromeC1956097OMIM12
HP:0001252HP:0008936Muscular hypotonia of the trunk1DARS1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticityC3809008OMIM1424
HP:0001252HP:0008936Muscular hypotonia of the trunk1DCX1641300067Lissencephaly, X-linkedC1848199OMIM138145
HP:0001252HP:0008936Muscular hypotonia of the trunk1DDC1644608643Deficiency of aromatic-L-amino-acid decarboxylaseC1291564OMIM5343
HP:0001252HP:0001290Generalized hypotonia1DHCR71717270400Smith-Lemli-Opitz syndromeC0175694OMIM198159
HP:0001252HP:0001319Neonatal hypotonia1DLAT1737245348Pyruvate dehydrogenase E2 deficiencyC1855565OMIM482
HP:0001252HP:0006829Severe muscular hypotonia1DPM28818615042Congenital disorder of glycosylation type 1uC3554385OMIM226
HP:0001252HP:0001319Neonatal hypotonia1DST667614653Neuropathy, hereditary sensory and autonomic, type VIC3539003OMIM6108
HP:0001252HP:0001319Neonatal hypotonia1EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0001252HP:0001319Neonatal hypotonia1EEF1A21917616409Epileptic encephalopathy, early infantile, 33C4225337OMIM1060
HP:0001252HP:0001319Neonatal hypotonia1EEF1A21917616393Mental retardation, autosomal dominant 38C4225343OMIM1060
HP:0001252HP:0001319Neonatal hypotonia1EGR21959605253Congenital hypomyelinating neuropathyC0393818OMIM2358
HP:0001252HP:0001319Neonatal hypotonia1ERCC6L2375748615715Bone marrow failure syndrome 2C3810350OMIM24
HP:0001252HP:0008947Infantile muscular hypotonia1ERMARD55780758576q terminal deletion syndromeORPHA236
HP:0001252HP:0008936Muscular hypotonia of the trunk1EXOSC351010614678Pontocerebellar hypoplasia, type 1bC3553449OMIM1838
HP:0001252HP:0008936Muscular hypotonia of the trunk1FAM126A84668610532Hypomyelination and Congenital CataractC2674508OMIM1290
HP:0001252HP:0008947Infantile muscular hypotonia1FGFR32261100800AchondroplasiaC0001080OMIM69145
HP:0001252HP:0001290Generalized hypotonia1FGFRL1538341941904p partial monosomy syndromeC1956097OMIM7
HP:0001252HP:0001319Neonatal hypotonia1FKRP79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5C1847759OMIM114157
HP:0001252HP:0006829Severe muscular hypotonia1FKRP79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5C3150413OMIM114157
HP:0001252HP:0006829Severe muscular hypotonia1FKRP79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1CN033898OMIM114157
HP:0001252HP:0006829Severe muscular hypotonia1FKTN2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1CN033898OMIM51184
HP:0001252HP:0001319Neonatal hypotonia1FLNA2316300321FG syndrome 2C1845902OMIM211493
HP:0001252HP:0001319Neonatal hypotonia1FOXG12290613454Rett syndrome, congenital variantC3150705OMIM116177
HP:0001252HP:0008947Infantile muscular hypotonia1GAMT2593612736Deficiency of guanidinoacetate methyltransferaseC0574080OMIM5391
HP:0001252HP:0001290Generalized hypotonia1GAN8139643Giant axonal neuropathyORPHA74121
HP:0001252HP:0001319Neonatal hypotonia1GATAD2B57459615074Mental retardation, autosomal dominant 18C3554448OMIM1133
HP:0001252HP:0006829Severe muscular hypotonia1GCH12643233910GTP cyclohydrolase I deficiencyC0268467OMIM22986
HP:0001252HP:0008936Muscular hypotonia of the trunk1GCK2645606176Permanent neonatal diabetes mellitusC1833104OMIM778237
HP:0001252HP:0008936Muscular hypotonia of the trunk1GFM185476609060Combined oxidative phosphorylation deficiency 1C1836797OMIM1885
HP:0001252HP:0008936Muscular hypotonia of the trunk1GJC257165608804Leukodystrophy, hypomyelinating, 2C1837355OMIM5337
HP:0001252HP:0001319Neonatal hypotonia1GLYCTK132158220120Deficiency of glycerate kinaseC1291386OMIM36
HP:0001252HP:0008936Muscular hypotonia of the trunk1GLYCTK132158220120Deficiency of glycerate kinaseC1291386OMIM36
HP:0001252HP:0001319Neonatal hypotonia1GNPTAB79158252500I cell diseaseC2673377OMIM174240
HP:0001252HP:0008936Muscular hypotonia of the trunk1GPHN10243615501Molybdenum cofactor deficiency, complementation group CC1854990OMIM2018
HP:0001252HP:0001290Generalized hypotonia1GPX4287993317Spondylometaphyseal dysplasia, Sedaghatian typeORPHA43
HP:0001252HP:0001290Generalized hypotonia1HERC28924176270Prader-Willi syndromeC0032897OMIM438
HP:0001252HP:0001319Neonatal hypotonia1HNF1A6927324575Hyperinsulinism due to HNF1A deficiencyORPHA519161
HP:0001252HP:0001319Neonatal hypotonia1HNF4A3172263455Hyperinsulinism due to HNF4A deficiencyORPHA149138
HP:0001252HP:0001319Neonatal hypotonia1HSD17B43295261515Bifunctional peroxisomal enzyme deficiencyC0342870OMIM9598
HP:0001252HP:0006829Severe muscular hypotonia1IBA57200205615330Multiple mitochondrial dysfunctions syndrome 3C3809165OMIM1016
HP:0001252HP:0008936Muscular hypotonia of the trunk1IER3IP151124614231Microcephaly, epilepsy, and diabetes syndromeC3280240OMIM36
HP:0001252HP:0008936Muscular hypotonia of the trunk1IFIH164135615846Aicardi-goutieres syndrome 7C3888244OMIM2028
HP:0001252HP:0008936Muscular hypotonia of the trunk1INS3630606176Permanent neonatal diabetes mellitusC1833104OMIM7662
HP:0001252HP:0001290Generalized hypotonia1IPW3653176270Prader-Willi syndromeC0032897OMIM
HP:0001252HP:0001319Neonatal hypotonia1ITGA73679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyC2750786OMIM7127
HP:0001252HP:0008947Infantile muscular hypotonia1ITGA73679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyC2750786OMIM7127
HP:0001252HP:0001290Generalized hypotonia1KANSL1284058610443Koolen-de Vries syndromeC1864871OMIM65283
HP:0001252HP:0001319Neonatal hypotonia1KAT6A7994616268Mental retardation, autosomal dominant 32C4225396OMIM1534
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNJ11376779134DEND syndromeORPHA175127
HP:0001252HP:0008936Muscular hypotonia of the trunk1KCNJ113767606176Permanent neonatal diabetes mellitusC1833104OMIM175127
HP:0001252HP:0000297Facial hypotonia1KDM5C8242300534Mental retardation, syndromic, Claes-Jensen type, X-linkedC1845243OMIM4581
HP:0001252HP:0001290Generalized hypotonia1KIAA05869786616546Short-rib thoracic dysplasia 14 with polydactylyC4225286OMIM2824
HP:0001252HP:0008936Muscular hypotonia of the trunk1KIAA2022340533300912Mental retardation, X-linked 98C3806730OMIM27
HP:0001252HP:0001319Neonatal hypotonia1KIAA202234053385277X-linked intellectual disability, Cantagrel typeORPHA27
HP:0001252HP:0006829Severe muscular hypotonia1KIF1A5472836PEHO syndromeORPHA33276
HP:0001252HP:0006829Severe muscular hypotonia1LARGE19215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6C3150414OMIM22136
HP:0001252HP:0006829Severe muscular hypotonia1LARGE19215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1CN033898OMIM22136
HP:0001252HP:0001290Generalized hypotonia1LETM139541941904p partial monosomy syndromeC1956097OMIM32
HP:0001252HP:0008936Muscular hypotonia of the trunk1LIPT151601616299Lipoyltransferase 1 deficiencyC4225379OMIM621
HP:0001252HP:0006829Severe muscular hypotonia1LMNA4000613205Congenital muscular dystrophy, LMNA-relatedC2750785OMIM495645
HP:0001252HP:0006829Severe muscular hypotonia1LMOD356203616165Nemaline myopathy 10C4015360OMIM1511
HP:0001252HP:0001319Neonatal hypotonia1LYRM457128615595Combined oxidative phosphorylation deficiency 19C3810055OMIM54
HP:0001252HP:0001290Generalized hypotonia1MAGEL254551176270Prader-Willi syndromeC0032897OMIM1363
HP:0001252HP:0001319Neonatal hypotonia1MAGEL254551615547Schaaf-yang syndromeC3809877OMIM1363
HP:0001252HP:0000297Facial hypotonia1MECP24204300260MECP2 duplication syndromeC1846058OMIM960950
HP:0001252HP:0008947Infantile muscular hypotonia1MECP24204300260MECP2 duplication syndromeC1846058OMIM960950
HP:0001252HP:0000297Facial hypotonia1MECP24204300055Mental retardation, X-linked, syndromic 13C1968550OMIM960950
HP:0001252HP:0008936Muscular hypotonia of the trunk1MECP24204300673Severe neonatal-onset encephalopathy with microcephalyC1968556OMIM960950
HP:0001252HP:0001319Neonatal hypotonia1MED129968305450FG syndromeC0220769OMIM20228
HP:0001252HP:0001290Generalized hypotonia1MED129968309520X-linked mental retardation with marfanoid habitus syndromeC0796022OMIM20228
HP:0001252HP:0001319Neonatal hypotonia1MEGF1084466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onsetC3280679OMIM15158
HP:0001252HP:0001290Generalized hypotonia1MGAT24247212066Carbohydrate-deficient glycoprotein syndrome type IIC0349654OMIM539
HP:0001252HP:0001290Generalized hypotonia1MKRN37681176270Prader-Willi syndromeC0032897OMIM275
HP:0001252HP:0001290Generalized hypotonia1MKRN3-AS110108176270Prader-Willi syndromeC0032897OMIM
HP:0001252HP:0001319Neonatal hypotonia1MPZ4359605253Congenital hypomyelinating neuropathyC0393818OMIM237134
HP:0001252HP:0001319Neonatal hypotonia1MRPS1651021610498Combined oxidative phosphorylation deficiency 2C1864843OMIM160
HP:0001252HP:0008936Muscular hypotonia of the trunk1MRPS2256945611719Combined oxidative phosphorylation deficiency 5C2673642OMIM625
HP:0001252HP:0006829Severe muscular hypotonia1MTM14534310400Severe X-linked myotubular myopathyC0410203OMIM289185
HP:0001252HP:0001319Neonatal hypotonia1MUSK4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyC4225368OMIM1772
HP:0001252HP:0001319Neonatal hypotonia1MYH74625255310Congenital myopathy with fiber type disproportionC0546264OMIM9081269
HP:0001252HP:0001290Generalized hypotonia1MYO5A464479476Griscelli disease type 1ORPHA435
HP:0001252HP:0001319Neonatal hypotonia1NADK21336866160342,4-Dienoyl-CoA reductase deficiencyC1857252OMIM214
HP:0001252HP:0008936Muscular hypotonia of the trunk1NALCN259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1C3809454OMIM3148
HP:0001252HP:0001290Generalized hypotonia1NDN4692176270Prader-Willi syndromeC0032897OMIM1
HP:0001252HP:0008936Muscular hypotonia of the trunk1NDUFB1154539300952Linear skin defects with multiple congenital anomalies 3C4225421OMIM63
HP:0001252HP:0001319Neonatal hypotonia1NEB4703256030Nemaline myopathy 2C1850569OMIM282745
HP:0001252HP:0008936Muscular hypotonia of the trunk1NECAP125977615833Early infantile epileptic encephalopathy 21C4014430OMIM11
HP:0001252HP:0001290Generalized hypotonia1NPAP123742176270Prader-Willi syndromeC0032897OMIM1
HP:0001252HP:0001290Generalized hypotonia1NRAS4893613224Noonan syndrome 6C2750732OMIM9102
HP:0001252HP:0001319Neonatal hypotonia1NSD164324117550Sotos syndrome 1CN035106OMIM468544
HP:0001252HP:0001290Generalized hypotonia1NSD274681941904p partial monosomy syndromeC1956097OMIM7118
HP:0001252HP:0001290Generalized hypotonia1NSDHL50814300831NSDHL-Related DisordersC3151781OMIM2834
HP:0001252HP:0008936Muscular hypotonia of the trunk1NSUN254888611091Mental retardation, autosomal recessive 5C1970199OMIM784
HP:0001252HP:0008936Muscular hypotonia of the trunk1OCLN100506658251290Band-like calcification with simplified gyration and polymicrogyriaC3489725OMIM1023
HP:0001252HP:0001319Neonatal hypotonia1OCRL4952534Acute myeloblastic leukemia without maturationORPHA25388
HP:0001252HP:0001319Neonatal hypotonia1OCRL4952309000Lowe syndromeC0028860OMIM25388
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAFAH1B15048607432Lissencephaly 1C1843916OMIM165231
HP:0001252HP:0008936Muscular hypotonia of the trunk1PAM1651025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki typeC2750075OMIM21
HP:0001252HP:0008936Muscular hypotonia of the trunk1PCCA5095606054Propionic acidemiaC0268579OMIM12196
HP:0001252HP:0008936Muscular hypotonia of the trunk1PCCB5096606054Propionic acidemiaC0268579OMIM11192
HP:0001252HP:0008936Muscular hypotonia of the trunk1PCLO27445608027Pontocerebellar hypoplasia type 3C1842687OMIM36
HP:0001252HP:0001319Neonatal hypotonia1PCLO27445608027Pontocerebellar hypoplasia type 3C1842687OMIM36
HP:0001252HP:0001290Generalized hypotonia1PDHB5162614111Pyruvate dehydrogenase E1-beta deficiencyC1867399OMIM1337
HP:0001252HP:0001319Neonatal hypotonia1PDHX8050245349Pyruvate dehydrogenase E3-binding protein deficiencyC1855553OMIM2298
HP:0001252HP:0001319Neonatal hypotonia1PDSS257107614652Coenzyme Q10 deficiency, primary, 3C3553358OMIM354
HP:0001252HP:0008936Muscular hypotonia of the trunk1PDX13651606176Permanent neonatal diabetes mellitusC1833104OMIM3030
HP:0001252HP:0006829Severe muscular hypotonia1PEX15189912Blepharoptosis myopia ectopia lentisC1862259ORPHA123169
HP:0001252HP:0001319Neonatal hypotonia1PEX15189601539Peroxisome biogenesis disorder 1BCN168921OMIM123169
HP:0001252HP:0006829Severe muscular hypotonia1PEX105192912Blepharoptosis myopia ectopia lentisC1862259ORPHA3075
HP:0001252HP:0001319Neonatal hypotonia1PEX105192614871Peroxisome biogenesis disorder 6BC3553948OMIM3075
HP:0001252HP:0006829Severe muscular hypotonia1PEX11B8799912Blepharoptosis myopia ectopia lentisC1862259ORPHA54
HP:0001252HP:0006829Severe muscular hypotonia1PEX125193912Blepharoptosis myopia ectopia lentisC1862259ORPHA3465
HP:0001252HP:0006829Severe muscular hypotonia1PEX135194912Blepharoptosis myopia ectopia lentisC1862259ORPHA1066
HP:0001252HP:0008947Infantile muscular hypotonia1PEX135194614883Peroxisome biogenesis disorder 11AC3554000OMIM1066
HP:0001252HP:0006829Severe muscular hypotonia1PEX145195912Blepharoptosis myopia ectopia lentisC1862259ORPHA446
HP:0001252HP:0006829Severe muscular hypotonia1PEX169409912Blepharoptosis myopia ectopia lentisC1862259ORPHA1259
HP:0001252HP:0001319Neonatal hypotonia1PEX169409614877Peroxisome biogenesis disorder 8BC3553960OMIM1259
HP:0001252HP:0006829Severe muscular hypotonia1PEX195824912Blepharoptosis myopia ectopia lentisC1862259ORPHA362
HP:0001252HP:0006829Severe muscular hypotonia1PEX25828912Blepharoptosis myopia ectopia lentisC1862259ORPHA1882
HP:0001252HP:0001319Neonatal hypotonia1PEX25828614867Peroxisome biogenesis disorder 5BC3542026OMIM1882
HP:0001252HP:0006829Severe muscular hypotonia1PEX2655670912Blepharoptosis myopia ectopia lentisC1862259ORPHA23106
HP:0001252HP:0001319Neonatal hypotonia1PEX2655670614873Peroxisome biogenesis disorder 7BC3553951OMIM23106
HP:0001252HP:0006829Severe muscular hypotonia1PEX38504912Blepharoptosis myopia ectopia lentisC1862259ORPHA747
HP:0001252HP:0006829Severe muscular hypotonia1PEX55830912Blepharoptosis myopia ectopia lentisC1862259ORPHA1499
HP:0001252HP:0006829Severe muscular hypotonia1PEX65190912Blepharoptosis myopia ectopia lentisC1862259ORPHA10498
HP:0001252HP:0001319Neonatal hypotonia1PEX65190614863Peroxisome biogenesis disorder 4BC3553937OMIM10498
HP:0001252HP:0001319Neonatal hypotonia1PGAP180055615802Mental retardation, autosomal recessive 42C4014343OMIM920
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIGA5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2C3275508OMIM1646
HP:0001252HP:0008936Muscular hypotonia of the trunk1PIK3R25296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1C1863924OMIM612
HP:0001252HP:0008936Muscular hypotonia of the trunk1PLCB123236613722Early infantile epileptic encephalopathy 12C3150988OMIM10119
HP:0001252HP:0001319Neonatal hypotonia1PLOD153511900Ehlers-Danlos syndrome, kyphoscoliotic typeORPHA38105
HP:0001252HP:0008936Muscular hypotonia of the trunk1PNPO55163610090Pyridoxal 5'-phosphate-dependent epilepsyC1864723OMIM2892
HP:0001252HP:0006829Severe muscular hypotonia1PNPT187178614932Combined oxidative phosphorylation deficiency 13C3554129OMIM660
HP:0001252HP:0001290Generalized hypotonia1POGZ23126616364White-sutton syndromeC4225351OMIM4735
HP:0001252HP:0001290Generalized hypotonia1POMGNT155624253280Muscle eye brain diseaseC0457133OMIM73180
HP:0001252HP:0006829Severe muscular hypotonia1POMGNT155624253280Muscle eye brain diseaseC0457133OMIM73180
HP:0001252HP:0001319Neonatal hypotonia1POMK84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12C3808964OMIM618
HP:0001252HP:0001319Neonatal hypotonia1POMK84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12C4015184OMIM618
HP:0001252HP:0006829Severe muscular hypotonia1POMT110585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1CN033898OMIM83213
HP:0001252HP:0006829Severe muscular hypotonia1POMT229954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2C3150411OMIM51221
HP:0001252HP:0006829Severe muscular hypotonia1POMT229954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1CN033898OMIM51221
HP:0001252HP:0001290Generalized hypotonia1PPP2R5D5528616355Mental retardation, autosomal dominant 35C4225354OMIM910
HP:0001252HP:0001319Neonatal hypotonia1PRPS15631301835Arts syndromeC0796028OMIM2749
HP:0001252HP:0008936Muscular hypotonia of the trunk1PTS58052616406-pyruvoyl-tetrahydropterin synthase deficiencyC0878676OMIM8819
HP:0001252HP:0001319Neonatal hypotonia1PURA5813616158Mental retardation, autosomal dominant 31C4015357OMIM2553
HP:0001252HP:0001290Generalized hypotonia1PWAR1145624176270Prader-Willi syndromeC0032897OMIM
HP:0001252HP:0001290Generalized hypotonia1PWRN1791114176270Prader-Willi syndromeC0032897OMIM
HP:0001252HP:0008936Muscular hypotonia of the trunk1PYCR229920616420Leukodystrophy, hypomyelinating, 10C4225332OMIM1211
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAB1822931614222Warburg micro syndrome 3C3280203OMIM585
HP:0001252HP:0008936Muscular hypotonia of the trunk1RAB3GAP225782614225Warburg micro syndrome 2C3280214OMIM11135
HP:0001252HP:0001290Generalized hypotonia1RAI110743182290Smith-Magenis syndromeC0795864OMIM107150
HP:0001252HP:0001319Neonatal hypotonia1RAPSN5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiencyC1837094OMIM5873
HP:0001252HP:0006829Severe muscular hypotonia1RMND155005614922Combined oxidative phosphorylation deficiency 11C3554067OMIM1526
HP:0001252HP:0001319Neonatal hypotonia1RYR16261117000Central core diseaseC0751951OMIM6021200
HP:0001252HP:0001319Neonatal hypotonia1RYR16261255310Congenital myopathy with fiber type disproportionC0546264OMIM6021200
HP:0001252HP:0001319Neonatal hypotonia1RYR16261255320Minicore myopathy with external ophthalmoplegiaC1850674OMIM6021200
HP:0001252HP:0001290Generalized hypotonia1SBDS51119811Balo diseaseORPHA8826
HP:0001252HP:0001319Neonatal hypotonia1SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0001252HP:0001319Neonatal hypotonia1SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0001252HP:0001319Neonatal hypotonia1SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0001252HP:0001319Neonatal hypotonia1SELENON57190255310Congenital myopathy with fiber type disproportionC0546264OMIM59144
HP:0001252HP:0001290Generalized hypotonia1SERPINH1871613848Osteogenesis imperfecta type 10C3151211OMIM552
HP:0001252HP:0001319Neonatal hypotonia1SH2B125970261222Distal 16p11.2 microdeletion syndromeORPHA15
HP:0001252HP:0001319Neonatal hypotonia1SHANK38535860623222q13.3 deletion syndromeC1853490OMIM17153
HP:0001252HP:0001290Generalized hypotonia1SHANK38535860623222q13.3 deletion syndromeC1853490OMIM17153
HP:0001252HP:0001319Neonatal hypotonia1SHANK38535848652Monosomy 22q13ORPHA17153
HP:0001252HP:0001290Generalized hypotonia1SLC12A69990218000Andermann syndromeC0795950OMIM18163
HP:0001252HP:0001319Neonatal hypotonia1SLC12A69990218000Andermann syndromeC0795950OMIM18163
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC13A5284111615905Epileptic encephalopathy, early infantile, 25C4014621OMIM1773
HP:0001252HP:0001319Neonatal hypotonia1SLC16A26567300523Allan-Herndon-Dudley syndromeC0795889OMIM8157
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC18A26571352649Brain dopamine-serotonin vesicular transport diseaseORPHA52
HP:0001252HP:0001290Generalized hypotonia1SLC18A26571352649Brain dopamine-serotonin vesicular transport diseaseORPHA52
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC19A380704607483Basal ganglia disease, biotin-responsiveC1843807OMIM24110
HP:0001252HP:0006829Severe muscular hypotonia1SLC25A16576615182Combined d-2- and l-2-hydroxyglutaric aciduriaC2746066OMIM1628
HP:0001252HP:0006829Severe muscular hypotonia1SLC25A128604612949Hypomyelination, global cerebralC2751855OMIM444
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC25A1960386607196Amish lethal microcephalyC1846648OMIM236
HP:0001252HP:0001319Neonatal hypotonia1SLC25A2279751609304Early myoclonic encephalopathyC0270855OMIM9166
HP:0001252HP:0008936Muscular hypotonia of the trunk1SLC6A36531613135Infantile Parkinsonism-dystoniaC2751067OMIM4613
HP:0001252HP:0001319Neonatal hypotonia1SLC6A86535300352Creatine deficiency, X-linkedC1845862OMIM127122
HP:0001252HP:0001290Generalized hypotonia1SNORD115-1338433176270Prader-Willi syndromeC0032897OMIM
HP:0001252HP:0001290Generalized hypotonia1SNORD116-1100033413176270Prader-Willi syndromeC0032897OMIM
HP:0001252HP:0001290Generalized hypotonia1SNRPN6638176270Prader-Willi syndromeC0032897OMIM2237
HP:0001252HP:0001319Neonatal hypotonia1SOX106663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung diseaseC1836727OMIM13061
HP:0001252HP:0008936Muscular hypotonia of the trunk1SOX106663611584Waardenburg syndrome type 2EC2700405OMIM13061
HP:0001252HP:0008936Muscular hypotonia of the trunk1SPATA5166378616577Epilepsy, hearing loss, and mental retardation syndromeC4225276OMIM2119
HP:0001252HP:0006829Severe muscular hypotonia1SPEG10290615959Myopathy, centronuclear, 5C4014814OMIM620
HP:0001252HP:0008936Muscular hypotonia of the trunk1SPR6697612716Sepiapterin reductase deficiencyC0268468OMIM2228
HP:0001252HP:0001290Generalized hypotonia1SSR46748370927SSR4-CDGORPHA612
HP:0001252HP:0001290Generalized hypotonia1STT3A3703370921STT3A-CDGORPHA121
HP:0001252HP:0001290Generalized hypotonia1STT3B201595370924STT3B-CDGORPHA218
HP:0001252HP:0001319Neonatal hypotonia1SUMF1285362585Al Gazali Hirschsprung syndromeC1856110ORPHA5180
HP:0001252HP:0001319Neonatal hypotonia1SUMF1285362272200Multiple sulfatase deficiencyC0268263OMIM5180
HP:0001252HP:0008947Infantile muscular hypotonia1SUOX6821272300Sulfite oxidase deficiencyC0268624OMIM2640
HP:0001252HP:0008936Muscular hypotonia of the trunk1TARS280222615918Combined oxidative phosphorylation deficiency 21C4014668OMIM228
HP:0001252HP:0001319Neonatal hypotonia1TBR11071616172q24 microdeletion syndromeORPHA161
HP:0001252HP:0008936Muscular hypotonia of the trunk1TH7054605407Segawa syndrome, autosomal recessiveC1854299OMIM6780
HP:0001252HP:0001319Neonatal hypotonia1TPM27169255310Congenital myopathy with fiber type disproportionC0546264OMIM3854
HP:0001252HP:0001319Neonatal hypotonia1TPM37170255310Congenital myopathy with fiber type disproportionC0546264OMIM27108
HP:0001252HP:0008936Muscular hypotonia of the trunk1TREX111277225750Aicardi Goutieres syndrome 1C0796126OMIM6556
HP:0001252HP:0001290Generalized hypotonia1TRHR720199832Resistance to thyrotropin-releasing hormone syndromeORPHA52
HP:0001252HP:0001290Generalized hypotonia1TRIM223321615490Charcot-Marie-Tooth disease, axonal, type 2RC3809655OMIM83
HP:0001252HP:0008947Infantile muscular hypotonia1TRPS17227190350Trichorhinophalangeal dysplasia type IC0432233OMIM136171
HP:0001252HP:0008936Muscular hypotonia of the trunk1TSEN280746612389Pontocerebellar hypoplasia type 2BC2676466OMIM484
HP:0001252HP:0001319Neonatal hypotonia1TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0001252HP:0001319Neonatal hypotonia1TUBA851807613180Polymicrogyria with optic nerve hypoplasiaC2750798OMIM121
HP:0001252HP:0008936Muscular hypotonia of the trunk1TUBB310381614039Cortical dysplasia, complex, with other brain malformations 1C3279670OMIM2464
HP:0001252HP:0006829Severe muscular hypotonia1UBA17317301830Arthrogryposis multiplex congenita, distal, X-linkedC1844934OMIM435
HP:0001252HP:0008947Infantile muscular hypotonia1UGT1A15465879234Crigler-Najjar syndrome type 1ORPHA14473
HP:0001252HP:0001319Neonatal hypotonia1UPB151733613161Deficiency of beta-ureidopropionaseC1291512OMIM1744
HP:0001252HP:0001319Neonatal hypotonia1UQCC284300615824Mitochondrial complex III deficiency, nuclear type 7C4014408OMIM17
HP:0001252HP:0000297Facial hypotonia1VPS13B157680216550Cohen syndromeC0265223OMIM188546
HP:0001252HP:0001319Neonatal hypotonia1VPS13B157680216550Cohen syndromeC0265223OMIM188546
HP:0001252HP:0001319Neonatal hypotonia1VPS5355275615851Pontocerebellar hypoplasia, type 2eC4014488OMIM526
HP:0001252HP:0008936Muscular hypotonia of the trunk1WWOX51741616211Epileptic encephalopathy, early infantile, 28C4015519OMIM39149
HP:0001252HP:0000297Facial hypotonia1XYLT26413285194Spondylo-ocular syndromeORPHA55
HP:0001252HP:0006829Severe muscular hypotonia1ZDHHC15158866300577Mental retardation 91, X-linkedC1845142OMIM110
HP:0001252HP:0006830Severe neonatal hypotonia in males2
HP:0001252HP:0006852Episodic generalized hypotonia2ATP1A3478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing lossC1832466OMIM100150
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHAT1103254210Familial infantile myastheniaC0393929OMIM6865
HP:0001252HP:0003397Generalized hypotonia due to defect at the neuromuscular junction2CHRNE1145605809Myasthenic syndrome, congenital, 4a, slow-channelC1853949OMIM126139
HP:0001252HP:0009062Infantile axial hypotonia2HSD17B103028300220