Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Hypotonia (HP:0001252)help
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Infantile muscular hypotonia (HP:0008947)help
Term ID: 8947
Name: Infantile muscular hypotonia
Synonym: Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia
Definition: Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Comments:
Reference: HP:0008947
Genes and Diseases:
 
       Child Nodes:
........expandInfantile axial hypotonia (HP:0009062) help

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandAxial hypotonia (HP:0008936) help
..expandFacial hypotonia (HP:0000297) help
..expandFrog-leg posture (HP:0031139) help
..expandGeneralized hypotonia (HP:0001290) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008947HP:0008947Infantile muscular hypotonia0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0008947HP:0008947Infantile muscular hypotonia0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent90
HP:0008947HP:0008947Infantile muscular hypotonia0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare200
HP:0008947HP:0008947Infantile muscular hypotonia0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0008947HP:0008947Infantile muscular hypotonia0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0008947HP:0008947Infantile muscular hypotonia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent88
HP:0008947HP:0008947Infantile muscular hypotonia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0008947HP:0008947Infantile muscular hypotonia0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0008947HP:0008947Infantile muscular hypotonia0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040281 - Very frequent41
HP:0008947HP:0008947Infantile muscular hypotonia0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0008947HP:0008947Infantile muscular hypotonia0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0008947HP:0008947Infantile muscular hypotonia0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0008947HP:0008947Infantile muscular hypotonia0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent166
HP:0008947HP:0008947Infantile muscular hypotonia0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0008947HP:0008947Infantile muscular hypotonia0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040281 - Very frequent49
HP:0008947HP:0008947Infantile muscular hypotonia0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0008947HP:0008947Infantile muscular hypotonia0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0008947HP:0008947Infantile muscular hypotonia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0008947HP:0008947Infantile muscular hypotonia0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0008947HP:0008947Infantile muscular hypotonia0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaliesHP:0040284 - Very rare13
HP:0008947HP:0008947Infantile muscular hypotonia0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0008947HP:0008947Infantile muscular hypotonia0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent118
HP:0008947HP:0008947Infantile muscular hypotonia0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0008947HP:0008947Infantile muscular hypotonia0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent405
HP:0008947HP:0008947Infantile muscular hypotonia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0008947HP:0008947Infantile muscular hypotonia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0008947HP:0008947Infantile muscular hypotonia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0008947HP:0008947Infantile muscular hypotonia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0008947HP:0008947Infantile muscular hypotonia0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0008947HP:0008947Infantile muscular hypotonia0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0008947HP:0008947Infantile muscular hypotonia0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040281 - Very frequent79
HP:0008947HP:0008947Infantile muscular hypotonia0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0008947HP:0008947Infantile muscular hypotonia0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0008947HP:0008947Infantile muscular hypotonia0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0008947HP:0008947Infantile muscular hypotonia0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0008947HP:0008947Infantile muscular hypotonia0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0008947HP:0008947Infantile muscular hypotonia0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0008947HP:0008947Infantile muscular hypotonia0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0008947HP:0008947Infantile muscular hypotonia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent27
HP:0008947HP:0008947Infantile muscular hypotonia0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0008947HP:0008947Infantile muscular hypotonia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0008947HP:0008947Infantile muscular hypotonia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0008947HP:0008947Infantile muscular hypotonia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0008947HP:0008947Infantile muscular hypotonia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0008947HP:0008947Infantile muscular hypotonia0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0008947HP:0008947Infantile muscular hypotonia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0008947HP:0008947Infantile muscular hypotonia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040282 - Frequent44
HP:0008947HP:0008947Infantile muscular hypotonia0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0008947HP:0008947Infantile muscular hypotonia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0008947HP:0008947Infantile muscular hypotonia0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040281 - Very frequent27
HP:0008947HP:0008947Infantile muscular hypotonia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040282 - Frequent144
HP:0008947HP:0008947Infantile muscular hypotonia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0008947HP:0008947Infantile muscular hypotonia0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0008947HP:0008947Infantile muscular hypotonia0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0008947HP:0008947Infantile muscular hypotonia0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent114
HP:0008947HP:0008947Infantile muscular hypotonia0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0008947HP:0008947Infantile muscular hypotonia0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0008947HP:0008947Infantile muscular hypotonia0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0008947HP:0008947Infantile muscular hypotonia0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0008947HP:0008947Infantile muscular hypotonia0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0008947HP:0008947Infantile muscular hypotonia0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0008947HP:0008947Infantile muscular hypotonia0FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0008947HP:0008947Infantile muscular hypotonia0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0008947HP:0008947Infantile muscular hypotonia0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent157
HP:0008947HP:0008947Infantile muscular hypotonia0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0008947HP:0008947Infantile muscular hypotonia0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0008947HP:0008947Infantile muscular hypotonia0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0008947HP:0008947Infantile muscular hypotonia0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0008947HP:0008947Infantile muscular hypotonia0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0008947HP:0008947Infantile muscular hypotonia0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0008947HP:0008947Infantile muscular hypotonia0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0008947HP:0008947Infantile muscular hypotonia0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0008947HP:0008947Infantile muscular hypotonia0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0008947HP:0008947Infantile muscular hypotonia0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0008947HP:0008947Infantile muscular hypotonia0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0008947HP:0008947Infantile muscular hypotonia0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome14
HP:0008947HP:0008947Infantile muscular hypotonia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0008947HP:0008947Infantile muscular hypotonia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040281 - Very frequent120
HP:0008947HP:0008947Infantile muscular hypotonia0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0008947HP:0008947Infantile muscular hypotonia0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0008947HP:0008947Infantile muscular hypotonia0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0008947HP:0008947Infantile muscular hypotonia0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0008947HP:0008947Infantile muscular hypotonia0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040282 - Frequent6
HP:0008947HP:0008947Infantile muscular hypotonia0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0008947HP:0008947Infantile muscular hypotonia0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent34
HP:0008947HP:0008947Infantile muscular hypotonia0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent36
HP:0008947HP:0008947Infantile muscular hypotonia0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040283 - Occasional12
HP:0008947HP:0008947Infantile muscular hypotonia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0008947HP:0008947Infantile muscular hypotonia0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent108
HP:0008947HP:0008947Infantile muscular hypotonia0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040282 - Frequent434
HP:0008947HP:0008947Infantile muscular hypotonia0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent5
HP:0008947HP:0008947Infantile muscular hypotonia0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040282 - Frequent30
HP:0008947HP:0008947Infantile muscular hypotonia0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional4
HP:0008947HP:0008947Infantile muscular hypotonia0H4C5 CL E G H83674790OMIM:619950
HP:0008947HP:0008947Infantile muscular hypotonia0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0008947HP:0008947Infantile muscular hypotonia0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional9
HP:0008947HP:0008947Infantile muscular hypotonia0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent145
HP:0008947HP:0008947Infantile muscular hypotonia0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0008947HP:0008947Infantile muscular hypotonia0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0008947HP:0008947Infantile muscular hypotonia0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0008947HP:0008947Infantile muscular hypotonia0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0008947HP:0008947Infantile muscular hypotonia0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent136
HP:0008947HP:0008947Infantile muscular hypotonia0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0008947HP:0008947Infantile muscular hypotonia0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0008947HP:0008947Infantile muscular hypotonia0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040281 - Very frequent63
HP:0008947HP:0008947Infantile muscular hypotonia0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040281 - Very frequent93
HP:0008947HP:0008947Infantile muscular hypotonia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0008947HP:0008947Infantile muscular hypotonia0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0008947HP:0008947Infantile muscular hypotonia0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0008947HP:0008947Infantile muscular hypotonia0MED12 CL E G H996811957ORPHA:293707Blepharophimosis-intellectual disability syndrome, MKB typeHP:0040282 - Frequent228
HP:0008947HP:0008947Infantile muscular hypotonia0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0008947HP:0008947Infantile muscular hypotonia0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0008947HP:0008947Infantile muscular hypotonia0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040282 - Frequent37
HP:0008947HP:0008947Infantile muscular hypotonia0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0008947HP:0008947Infantile muscular hypotonia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0008947HP:0008947Infantile muscular hypotonia0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040282 - Frequent36
HP:0008947HP:0008947Infantile muscular hypotonia0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0008947HP:0008947Infantile muscular hypotonia0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0008947HP:0008947Infantile muscular hypotonia0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0008947HP:0008947Infantile muscular hypotonia0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0008947HP:0008947Infantile muscular hypotonia0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040282 - Frequent43
HP:0008947HP:0008947Infantile muscular hypotonia0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0008947HP:0008947Infantile muscular hypotonia0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0008947HP:0008947Infantile muscular hypotonia0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0008947HP:0008947Infantile muscular hypotonia0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0008947HP:0008947Infantile muscular hypotonia0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0008947HP:0008947Infantile muscular hypotonia0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0008947HP:0008947Infantile muscular hypotonia0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0008947HP:0008947Infantile muscular hypotonia0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0008947HP:0008947Infantile muscular hypotonia0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0008947HP:0008947Infantile muscular hypotonia0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0008947HP:0008947Infantile muscular hypotonia0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0008947HP:0008947Infantile muscular hypotonia0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0008947HP:0008947Infantile muscular hypotonia0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0008947HP:0008947Infantile muscular hypotonia0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent8
HP:0008947HP:0008947Infantile muscular hypotonia0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent20
HP:0008947HP:0008947Infantile muscular hypotonia0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent11
HP:0008947HP:0008947Infantile muscular hypotonia0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent36
HP:0008947HP:0008947Infantile muscular hypotonia0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent84
HP:0008947HP:0008947Infantile muscular hypotonia0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0008947HP:0008947Infantile muscular hypotonia0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent57
HP:0008947HP:0008947Infantile muscular hypotonia0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent6
HP:0008947HP:0008947Infantile muscular hypotonia0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent244
HP:0008947HP:0008947Infantile muscular hypotonia0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0008947HP:0008947Infantile muscular hypotonia0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent213
HP:0008947HP:0008947Infantile muscular hypotonia0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent221
HP:0008947HP:0008947Infantile muscular hypotonia0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0008947HP:0008947Infantile muscular hypotonia0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0008947HP:0008947Infantile muscular hypotonia0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0008947HP:0008947Infantile muscular hypotonia0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0008947HP:0008947Infantile muscular hypotonia0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0008947HP:0008947Infantile muscular hypotonia0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0008947HP:0008947Infantile muscular hypotonia0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0008947HP:0008947Infantile muscular hypotonia0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0008947HP:0008947Infantile muscular hypotonia0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040282 - Frequent3
HP:0008947HP:0008947Infantile muscular hypotonia0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040281 - Very frequent150
HP:0008947HP:0008947Infantile muscular hypotonia0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0008947HP:0008947Infantile muscular hypotonia0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0008947HP:0008947Infantile muscular hypotonia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0008947HP:0008947Infantile muscular hypotonia0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0008947HP:0008947Infantile muscular hypotonia0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0008947HP:0008947Infantile muscular hypotonia0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0008947HP:0008947Infantile muscular hypotonia0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0008947HP:0008947Infantile muscular hypotonia0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0008947HP:0008947Infantile muscular hypotonia0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0008947HP:0008947Infantile muscular hypotonia0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0008947HP:0008947Infantile muscular hypotonia0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent126
HP:0008947HP:0008947Infantile muscular hypotonia0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0008947HP:0008947Infantile muscular hypotonia0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent427
HP:0008947HP:0008947Infantile muscular hypotonia0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0008947HP:0008947Infantile muscular hypotonia0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0008947HP:0008947Infantile muscular hypotonia0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0008947HP:0008947Infantile muscular hypotonia0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0008947HP:0008947Infantile muscular hypotonia0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0008947HP:0008947Infantile muscular hypotonia0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0008947HP:0008947Infantile muscular hypotonia0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0008947HP:0008947Infantile muscular hypotonia0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0008947HP:0008947Infantile muscular hypotonia0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent11
HP:0008947HP:0008947Infantile muscular hypotonia0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040281 - Very frequent40
HP:0008947HP:0008947Infantile muscular hypotonia0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0008947HP:0008947Infantile muscular hypotonia0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0008947Infantile muscular hypotonia0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0008947HP:0008947Infantile muscular hypotonia0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0008947HP:0008947Infantile muscular hypotonia0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040283 - Occasional110
HP:0008947HP:0008947Infantile muscular hypotonia0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent166
HP:0008947HP:0008947Infantile muscular hypotonia0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040281 - Very frequent27
HP:0008947HP:0008947Infantile muscular hypotonia0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0008947HP:0008947Infantile muscular hypotonia0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0008947HP:0008947Infantile muscular hypotonia0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0008947HP:0008947Infantile muscular hypotonia0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0008947HP:0008947Infantile muscular hypotonia0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0008947HP:0008947Infantile muscular hypotonia0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0008947HP:0008947Infantile muscular hypotonia0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0008947HP:0008947Infantile muscular hypotonia0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0008947HP:0008947Infantile muscular hypotonia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0008947HP:0008947Infantile muscular hypotonia0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0008947HP:0008947Infantile muscular hypotonia0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0008947HP:0008947Infantile muscular hypotonia0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040282 - Frequent80
HP:0008947HP:0008947Infantile muscular hypotonia0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040282 - Frequent50
HP:0008947HP:0008947Infantile muscular hypotonia0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0008947HP:0008947Infantile muscular hypotonia0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0008947HP:0008947Infantile muscular hypotonia0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0008947HP:0008947Infantile muscular hypotonia0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0008947HP:0008947Infantile muscular hypotonia0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040281 - Very frequent60
HP:0008947HP:0008947Infantile muscular hypotonia0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0008947HP:0008947Infantile muscular hypotonia0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0008947HP:0008947Infantile muscular hypotonia0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0008947HP:0008947Infantile muscular hypotonia0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040281 - Very frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0008947HP:0008947Infantile muscular hypotonia0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0008947HP:0008947Infantile muscular hypotonia0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0008947Infantile muscular hypotonia0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040282 - Frequent12
HP:0008947HP:0008947Infantile muscular hypotonia0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0008947HP:0008947Infantile muscular hypotonia0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0008947Infantile muscular hypotonia0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0008947HP:0008947Infantile muscular hypotonia0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0008947HP:0008947Infantile muscular hypotonia0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040283 - Occasional27
HP:0008947HP:0008947Infantile muscular hypotonia0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040283 - Occasional27
HP:0008947HP:0008947Infantile muscular hypotonia0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent1
HP:0008947HP:0008947Infantile muscular hypotonia0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0008947HP:0008947Infantile muscular hypotonia0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0008947HP:0008947Infantile muscular hypotonia0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0008947HP:0008947Infantile muscular hypotonia0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0008947HP:0008947Infantile muscular hypotonia0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0008947HP:0008947Infantile muscular hypotonia0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0008947HP:0008947Infantile muscular hypotonia0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040283 - Occasional39
HP:0008947HP:0008947Infantile muscular hypotonia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0008947HP:0008947Infantile muscular hypotonia0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35
HP:0008947HP:0008947Infantile muscular hypotonia0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040282 - Frequent278
HP:0008947HP:0008947Infantile muscular hypotonia0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0008947HP:0008947Infantile muscular hypotonia0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0008947HP:0008947Infantile muscular hypotonia0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0008947HP:0008947Infantile muscular hypotonia0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0008947HP:0008947Infantile muscular hypotonia0UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 1HP:0040281 - Very frequent73
HP:0008947HP:0008947Infantile muscular hypotonia0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0008947HP:0008947Infantile muscular hypotonia0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040282 - Frequent27
HP:0008947HP:0008947Infantile muscular hypotonia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040281 - Very frequent2
HP:0008947HP:0008947Infantile muscular hypotonia0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0008947HP:0008947Infantile muscular hypotonia0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0008947HP:0008947Infantile muscular hypotonia0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0008947HP:0008947Infantile muscular hypotonia0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0008947HP:0008947Infantile muscular hypotonia0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0008947HP:0008947Infantile muscular hypotonia0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0008947HP:0009062Infantile axial hypotonia1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0008947HP:0009062Infantile axial hypotonia1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0008947HP:0009062Infantile axial hypotonia1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0008947HP:0009062Infantile axial hypotonia1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0008947HP:0009062Infantile axial hypotonia1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0008947HP:0009062Infantile axial hypotonia1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0008947HP:0009062Infantile axial hypotonia1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0008947HP:0009062Infantile axial hypotonia1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0008947HP:0009062Infantile axial hypotonia1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0008947HP:0009062Infantile axial hypotonia1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0008947HP:0009062Infantile axial hypotonia1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0008947HP:0009062Infantile axial hypotonia1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0008947HP:0009062Infantile axial hypotonia1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0008947HP:0009062Infantile axial hypotonia1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0008947HP:0009062Infantile axial hypotonia1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0008947HP:0009062Infantile axial hypotonia1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0008947HP:0009062Infantile axial hypotonia1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0008947HP:0009062Infantile axial hypotonia1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0008947HP:0009062Infantile axial hypotonia1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0008947HP:0009062Infantile axial hypotonia1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0008947HP:0009062Infantile axial hypotonia1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0008947HP:0009062Infantile axial hypotonia1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0008947HP:0009062Infantile axial hypotonia1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0008947HP:0009062Infantile axial hypotonia1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0008947HP:0009062Infantile axial hypotonia1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0008947HP:0009062Infantile axial hypotonia1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0008947HP:0009062Infantile axial hypotonia1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0008947HP:0009062Infantile axial hypotonia1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0008947HP:0009062Infantile axial hypotonia1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0008947HP:0009062Infantile axial hypotonia1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0008947HP:0009062Infantile axial hypotonia1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0008947HP:0009062Infantile axial hypotonia1GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0008947HP:0009062Infantile axial hypotonia1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0008947HP:0009062Infantile axial hypotonia1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0008947HP:0009062Infantile axial hypotonia1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0008947HP:0009062Infantile axial hypotonia1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0008947HP:0009062Infantile axial hypotonia1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0008947HP:0009062Infantile axial hypotonia1GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0008947HP:0009062Infantile axial hypotonia1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0008947HP:0009062Infantile axial hypotonia1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0008947HP:0009062Infantile axial hypotonia1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0008947HP:0009062Infantile axial hypotonia1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0008947HP:0009062Infantile axial hypotonia1MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0008947HP:0009062Infantile axial hypotonia1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0008947HP:0009062Infantile axial hypotonia1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0008947HP:0009062Infantile axial hypotonia1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0008947HP:0009062Infantile axial hypotonia1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0008947HP:0009062Infantile axial hypotonia1PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0008947HP:0009062Infantile axial hypotonia1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0008947HP:0009062Infantile axial hypotonia1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0008947HP:0009062Infantile axial hypotonia1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0008947HP:0009062Infantile axial hypotonia1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040282 - Frequent27
HP:0008947HP:0009062Infantile axial hypotonia1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0008947HP:0009062Infantile axial hypotonia1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0008947HP:0009062Infantile axial hypotonia1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0008947HP:0009062Infantile axial hypotonia1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0008947HP:0009062Infantile axial hypotonia1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0008947HP:0009062Infantile axial hypotonia1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0008947HP:0009062Infantile axial hypotonia1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0008947HP:0009062Infantile axial hypotonia1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0008947HP:0009062Infantile axial hypotonia1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0008947HP:0009062Infantile axial hypotonia1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0008947HP:0009062Infantile axial hypotonia1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0008947HP:0009062Infantile axial hypotonia1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0008947HP:0009062Infantile axial hypotonia1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0008947HP:0009062Infantile axial hypotonia1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0008947HP:0009062Infantile axial hypotonia1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0008947HP:0009062Infantile axial hypotonia1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0009062Infantile axial hypotonia1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0009062Infantile axial hypotonia1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0008947HP:0009062Infantile axial hypotonia1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0008947HP:0009062Infantile axial hypotonia1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0008947HP:0009062Infantile axial hypotonia1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0008947HP:0009062Infantile axial hypotonia1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0009062Infantile axial hypotonia1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0009062Infantile axial hypotonia1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0009062Infantile axial hypotonia1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0008947HP:0009062Infantile axial hypotonia1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0008947HP:0009062Infantile axial hypotonia1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0008947HP:0009062Infantile axial hypotonia1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0008947HP:0009062Infantile axial hypotonia1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0008947HP:0009062Infantile axial hypotonia1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0008947HP:0009062Infantile axial hypotonia1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0008947HP:0009062Infantile axial hypotonia1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0008947HP:0009062Infantile axial hypotonia1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0008947HP:0009062Infantile axial hypotonia1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0008947HP:0009062Infantile axial hypotonia1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0008947HP:0009062Infantile axial hypotonia1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34


Genes (220) :AASS ACADS ACADVL ADAR ADAT3 ADGRG1 ADNP AHCY ALG11 ARID1A ARID1B ARID2 ARX ASAH1 ASXL3 ATP10A ATP6 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX B4GALT1 BMP2 CAMK2A CASK CDC42 CDKL5 CDON CLCN4 CLTCL1 COG5 COG8 COL5A1 COQ2 CPE CWF19L1 DAG1 DCHS1 DEAF1 DISP1 DLK1 DLL1 DMXL2 DNMT3A DOLK DPAGT1 DPF2 DPM1 DPYD EBF3 ERMARD EXTL3 FAT4 FGF8 FGFR1 FGFR3 FKRP FOXH1 GAA GABRA1 GABRG2 GALC GAMT GAS1 GATAD2B GFER GFM2 GLB1 GLI2 GLYCTK GM2A GMPPB GNAO1 GNB1 GRIN1 GRIN2A GRM7 GTPBP3 H19 H4C5 HEXB IGF2 ITCH KCNA1 KCNH1 KCNJ11 KCNN3 KIF15 LARGE1 LRP5 MAF MAGEL2 MAN1B1 MAN2B1 MECP2 MED12 MEG3 MFF MOGS MPDU1 MTRFR NACC1 NAGS NALCN ND1 ND2 ND3 ND4 ND5 ND6 NDUFAF3 NDUFB8 NDUFS2 NEK1 NEU1 NEUROD2 NKX2-1 NODAL NTNG2 NUP62 OCA2 PACS1 PAX7 PCDH19 PDSS2 PEX13 PGAP2 PGAP3 PI4KA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PLCH1 PNKP POGZ POMT1 POMT2 PRMT7 PRUNE1 PSAP PSAT1 PTCH1 RAC1 RAI1 RARS1 RNU12 RPL10 RTL1 RTTN RYR1 SARDH SATB2 SCN1A SCN1B SCN2A SCN9A SCO2 SEPSECS SHH SIAH1 SIK1 SIM1 SIX3 SLC19A3 SLC25A22 SLC35A2 SLC39A14 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMS SNRPN SON SOX11 SOX4 SPATA5 SRD5A3 SRPX2 STAG2 STIL SUCLG1 SUOX SURF1 SYT1 TBC1D24 TBCD TDGF1 TELO2 TGIF1 TRAPPC11 TRIM8 TRNK TRNL1 TRNV TRNW TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TUBB2B TUBB3 UBA1 UBE3A UBTF UGT1A1 UNC80 USP9X WARS2 ZEB2 ZIC2

Diseases (143) :ORPHA:2203 ORPHA:26792 ORPHA:26793 ORPHA:225154 ORPHA:363528 ORPHA:98889 ORPHA:404448 ORPHA:88618 ORPHA:280071 ORPHA:1465 ORPHA:1934 ORPHA:333 ORPHA:352577 ORPHA:411515 ORPHA:255210 ORPHA:357074 ORPHA:2834 ORPHA:79500 ORPHA:3473 OMIM:301040 OMIM:309580 ORPHA:79332 OMIM:617877 OMIM:617798 ORPHA:487796 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:485350 ORPHA:453510 ORPHA:263487 ORPHA:95428 OMIM:611182 OMIM:130000 ORPHA:255249 OMIM:619326 ORPHA:453521 ORPHA:370997 ORPHA:314679 ORPHA:468620 ORPHA:254531 ORPHA:404443 ORPHA:91131 ORPHA:86309 ORPHA:79322 ORPHA:1675 OMIM:617330 ORPHA:75857 ORPHA:508533 ORPHA:15 OMIM:100800 ORPHA:370968 ORPHA:308552 ORPHA:33069 ORPHA:206436 OMIM:612736 ORPHA:363686 ORPHA:330054 ORPHA:565624 ORPHA:79255 ORPHA:941 ORPHA:309246 ORPHA:488613 OMIM:616973 ORPHA:289266 ORPHA:444013 ORPHA:231144 OMIM:619950 ORPHA:309155 ORPHA:228426 ORPHA:79644 ORPHA:261323 ORPHA:2788 ORPHA:1272 ORPHA:398069 ORPHA:397941 ORPHA:309282 OMIM:300260 ORPHA:778 ORPHA:293707 ORPHA:485421 ORPHA:79330 ORPHA:79323 ORPHA:254930 ORPHA:500545 ORPHA:927 ORPHA:371364 ORPHA:70474 ORPHA:2751 ORPHA:93399 ORPHA:209905 OMIM:618718 ORPHA:98794 ORPHA:329224 OMIM:618578 OMIM:614883 ORPHA:247262 OMIM:618548 ORPHA:468678 ORPHA:464288 ORPHA:544469 ORPHA:284417 ORPHA:500159 ORPHA:477817 ORPHA:438114 ORPHA:512260 ORPHA:459070 ORPHA:468631 ORPHA:424107 ORPHA:3129 ORPHA:576283 ORPHA:2524 OMIM:619314 ORPHA:398079 ORPHA:263410 ORPHA:356961 ORPHA:521406 ORPHA:470 ORPHA:3063 ORPHA:500150 ORPHA:457351 ORPHA:324737 ORPHA:17 OMIM:245400 OMIM:272300 ORPHA:522077 ORPHA:496641 ORPHA:488642 ORPHA:369847 ORPHA:369840 OMIM:190350 ORPHA:300573 ORPHA:300570 ORPHA:1145 ORPHA:411511 ORPHA:98795 ORPHA:500180 ORPHA:79234 ORPHA:480880 ORPHA:572798 ORPHA:261552 ORPHA:261537
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.