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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Muscular hypotonia of the trunk (HP:0008936)help
Term ID: 8936
Name: Muscular hypotonia of the trunk
Synonym: Axial hypotonia; Low muscle tone in trunk; Truncal hypotonia
Definition: Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Comments:
Reference: HP:0008936
Genes and Diseases:
 
       Child Nodes:
........expandInfantile axial hypotonia (HP:0009062) help

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandFacial hypotonia (HP:0000297) help
..expandFrog-leg posture (HP:0031139) help
..expandGeneralized hypotonia (HP:0001290) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008936HP:0008936Muscular hypotonia of the trunk0ABCC8 CL E G H683379134ORPHA1189259600509
HP:0008936HP:0008936Muscular hypotonia of the trunk0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0008936HP:0008936Muscular hypotonia of the trunk0ADAR CL E G H10351ORPHA11122225146920
HP:0008936HP:0008936Muscular hypotonia of the trunk0ADCY5 CL E G H111324588ORPHA1653236600293
HP:0008936HP:0008936Muscular hypotonia of the trunk0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM111710648603605
HP:0008936HP:0008936Muscular hypotonia of the trunk0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0008936HP:0008936Muscular hypotonia of the trunk0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM165523157604566
HP:0008936HP:0008936Muscular hypotonia of the trunk0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0008936HP:0008936Muscular hypotonia of the trunk0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0008936HP:0008936Muscular hypotonia of the trunk0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0008936HP:0008936Muscular hypotonia of the trunk0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0008936HP:0008936Muscular hypotonia of the trunk0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0008936HP:0008936Muscular hypotonia of the trunk0ATAD3A CL E G H55210496790ORPHA139925567612316
HP:0008936HP:0008936Muscular hypotonia of the trunk0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0008936HP:0008936Muscular hypotonia of the trunk0CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0008936HP:0008936Muscular hypotonia of the trunk0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0008936HP:0008936Muscular hypotonia of the trunk0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0008936HP:0008936Muscular hypotonia of the trunk0COG4 CL E G H25839263501ORPHA133918620606976
HP:0008936HP:0008936Muscular hypotonia of the trunk0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0008936HP:0008936Muscular hypotonia of the trunk0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0008936HP:0008936Muscular hypotonia of the trunk0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0008936HP:0008936Muscular hypotonia of the trunk0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0008936HP:0008936Muscular hypotonia of the trunk0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0008936HP:0008936Muscular hypotonia of the trunk0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0008936HP:0008936Muscular hypotonia of the trunk0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0008936HP:0008936Muscular hypotonia of the trunk0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0008936HP:0008936Muscular hypotonia of the trunk0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0008936HP:0008936Muscular hypotonia of the trunk0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12593668601513
HP:0008936HP:0008936Muscular hypotonia of the trunk0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0008936HP:0008936Muscular hypotonia of the trunk0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0008936HP:0008936Muscular hypotonia of the trunk0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0008936HP:0008936Muscular hypotonia of the trunk0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0008936HP:0008936Muscular hypotonia of the trunk0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0008936HP:0008936Muscular hypotonia of the trunk0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0008936HP:0008936Muscular hypotonia of the trunk0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0008936HP:0008936Muscular hypotonia of the trunk0HACE1 CL E G H57531464282ORPHA122721033610876
HP:0008936HP:0008936Muscular hypotonia of the trunk0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0008936HP:0008936Muscular hypotonia of the trunk0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0008936HP:0008936Muscular hypotonia of the trunk0IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0008936HP:0008936Muscular hypotonia of the trunk0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0008936HP:0008936Muscular hypotonia of the trunk0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0008936HP:0008936Muscular hypotonia of the trunk0KCNJ11 CL E G H376779134ORPHA14356257600937
HP:0008936HP:0008936Muscular hypotonia of the trunk0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0008936HP:0008936Muscular hypotonia of the trunk0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0008936HP:0008936Muscular hypotonia of the trunk0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0008936HP:0008936Muscular hypotonia of the trunk0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0008936HP:0008936Muscular hypotonia of the trunk0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0008936HP:0008936Muscular hypotonia of the trunk0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0008936HP:0008936Muscular hypotonia of the trunk0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0008936HP:0008936Muscular hypotonia of the trunk0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM120920372300403
HP:0008936HP:0008936Muscular hypotonia of the trunk0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0008936HP:0008936Muscular hypotonia of the trunk0NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0008936HP:0008936Muscular hypotonia of the trunk0NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM18827728606384
HP:0008936HP:0008936Muscular hypotonia of the trunk0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0008936HP:0008936Muscular hypotonia of the trunk0NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0008936HP:0008936Muscular hypotonia of the trunk0NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM12727677608243
HP:0008936HP:0008936Muscular hypotonia of the trunk0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0008936HP:0008936Muscular hypotonia of the trunk0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0008936HP:0008936Muscular hypotonia of the trunk0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0008936HP:0008936Muscular hypotonia of the trunk0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0008936HP:0008936Muscular hypotonia of the trunk0PAFAH1B1 CL E G H5048607432Lissencephaly 1607432C0431375OMIM15388574601545
HP:0008936HP:0008936Muscular hypotonia of the trunk0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM110729679614336
HP:0008936HP:0008936Muscular hypotonia of the trunk0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0008936HP:0008936Muscular hypotonia of the trunk0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0008936HP:0008936Muscular hypotonia of the trunk0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0008936HP:0008936Muscular hypotonia of the trunk0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0008936HP:0008936Muscular hypotonia of the trunk0PDE10A CL E G H10846494526ORPHA12228772610652
HP:0008936HP:0008936Muscular hypotonia of the trunk0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM12228772610652
HP:0008936HP:0008936Muscular hypotonia of the trunk0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0008936HP:0008936Muscular hypotonia of the trunk0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0008936HP:0008936Muscular hypotonia of the trunk0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0008936HP:0008936Muscular hypotonia of the trunk0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0008936HP:0008936Muscular hypotonia of the trunk0PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0008936HP:0008936Muscular hypotonia of the trunk0PNPO CL E G H5516379096ORPHA131730260603287
HP:0008936HP:0008936Muscular hypotonia of the trunk0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0008936HP:0008936Muscular hypotonia of the trunk0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0008936HP:0008936Muscular hypotonia of the trunk0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0008936HP:0008936Muscular hypotonia of the trunk0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM119114244602207
HP:0008936HP:0008936Muscular hypotonia of the trunk0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM167117168609275
HP:0008936HP:0008936Muscular hypotonia of the trunk0RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0008936HP:0008936Muscular hypotonia of the trunk0RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0008936HP:0008936Muscular hypotonia of the trunk0RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0008936HP:0008936Muscular hypotonia of the trunk0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0008936HP:0008936Muscular hypotonia of the trunk0SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0008936HP:0008936Muscular hypotonia of the trunk0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC6A3 CL E G H6531238455ORPHA158311049126455
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0008936HP:0008936Muscular hypotonia of the trunk0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0008936HP:0008936Muscular hypotonia of the trunk0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM16525763613176
HP:0008936HP:0008936Muscular hypotonia of the trunk0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0008936HP:0008936Muscular hypotonia of the trunk0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0008936HP:0008936Muscular hypotonia of the trunk0SPR CL E G H669770594ORPHA119811257182125
HP:0008936HP:0008936Muscular hypotonia of the trunk0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0008936HP:0008936Muscular hypotonia of the trunk0TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0008936HP:0008936Muscular hypotonia of the trunk0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0008936HP:0008936Muscular hypotonia of the trunk0TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0008936HP:0008936Muscular hypotonia of the trunk0TREX1 CL E G H1127751ORPHA141812269606609
HP:0008936HP:0008936Muscular hypotonia of the trunk0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0008936HP:0008936Muscular hypotonia of the trunk0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0008936HP:0008936Muscular hypotonia of the trunk0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0008936HP:0008936Muscular hypotonia of the trunk0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0008936HP:0008936Muscular hypotonia of the trunk0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0008936HP:0008936Muscular hypotonia of the trunk0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0008936HP:0008936Muscular hypotonia of the trunk0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0008936HP:0008936Muscular hypotonia of the trunk0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0008936HP:0009062Infantile axial hypotonia1ABCC8 CL E G H683379134ORPHA1189259600509
HP:0008936HP:0009062Infantile axial hypotonia1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0008936HP:0009062Infantile axial hypotonia1ADAR CL E G H10351ORPHA11122225146920
HP:0008936HP:0009062Infantile axial hypotonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0008936HP:0009062Infantile axial hypotonia1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM111710648603605
HP:0008936HP:0009062Infantile axial hypotonia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0008936HP:0009062Infantile axial hypotonia1ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM165523157604566
HP:0008936HP:0009062Infantile axial hypotonia1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM1392469102771
HP:0008936HP:0009062Infantile axial hypotonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0008936HP:0009062Infantile axial hypotonia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0008936HP:0009062Infantile axial hypotonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0008936HP:0009062Infantile axial hypotonia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0008936HP:0009062Infantile axial hypotonia1ATAD3A CL E G H55210496790ORPHA139925567612316
HP:0008936HP:0009062Infantile axial hypotonia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM139925567612316
HP:0008936HP:0009062Infantile axial hypotonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0008936HP:0009062Infantile axial hypotonia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0008936HP:0009062Infantile axial hypotonia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0008936HP:0009062Infantile axial hypotonia1COG4 CL E G H25839263501ORPHA133918620606976
HP:0008936HP:0009062Infantile axial hypotonia1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM133918620606976
HP:0008936HP:0009062Infantile axial hypotonia1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA117592187120290
HP:0008936HP:0009062Infantile axial hypotonia1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA123802200120140
HP:0008936HP:0009062Infantile axial hypotonia1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM12205604677
HP:0008936HP:0009062Infantile axial hypotonia1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0008936HP:0009062Infantile axial hypotonia1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM14232714300121
HP:0008936HP:0009062Infantile axial hypotonia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0008936HP:0009062Infantile axial hypotonia1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0008936HP:0009062Infantile axial hypotonia1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0008936HP:0009062Infantile axial hypotonia1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12593668601513
HP:0008936HP:0009062Infantile axial hypotonia1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0008936HP:0009062Infantile axial hypotonia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0008936HP:0009062Infantile axial hypotonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0008936HP:0009062Infantile axial hypotonia1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0008936HP:0009062Infantile axial hypotonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0008936HP:0009062Infantile axial hypotonia1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0008936HP:0009062Infantile axial hypotonia1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM18234588602717
HP:0008936HP:0009062Infantile axial hypotonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0008936HP:0009062Infantile axial hypotonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0008936HP:0009062Infantile axial hypotonia1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0008936HP:0009062Infantile axial hypotonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0008936HP:0009062Infantile axial hypotonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0008936HP:0009062Infantile axial hypotonia1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0008936HP:0009062Infantile axial hypotonia1KCNJ11 CL E G H376779134ORPHA14356257600937
HP:0008936HP:0009062Infantile axial hypotonia1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0008936HP:0009062Infantile axial hypotonia1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0008936HP:0009062Infantile axial hypotonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0008936HP:0009062Infantile axial hypotonia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM111315505606048
HP:0008936HP:0009062Infantile axial hypotonia1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0008936HP:0009062Infantile axial hypotonia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0008936HP:0009062Infantile axial hypotonia1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0008936HP:0009062Infantile axial hypotonia1NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM120920372300403
HP:0008936HP:0009062Infantile axial hypotonia1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0008936HP:0009062Infantile axial hypotonia1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM122124539611623
HP:0008936HP:0009062Infantile axial hypotonia1NEDD4L CL E G H23327617201Periventricular nodular heterotopia 7617201C4310669OMIM18827728606384
HP:0008936HP:0009062Infantile axial hypotonia1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM199029433300524
HP:0008936HP:0009062Infantile axial hypotonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0008936HP:0009062Infantile axial hypotonia1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM12727677608243
HP:0008936HP:0009062Infantile axial hypotonia1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0008936HP:0009062Infantile axial hypotonia1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11388104602876
HP:0008936HP:0009062Infantile axial hypotonia1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0008936HP:0009062Infantile axial hypotonia1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0008936HP:0009062Infantile axial hypotonia1PAFAH1B1 CL E G H5048607432Lissencephaly 1607432C0431375OMIM15388574601545
HP:0008936HP:0009062Infantile axial hypotonia1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM110729679614336
HP:0008936HP:0009062Infantile axial hypotonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0008936HP:0009062Infantile axial hypotonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0008936HP:0009062Infantile axial hypotonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0008936HP:0009062Infantile axial hypotonia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0008936HP:0009062Infantile axial hypotonia1PDE10A CL E G H10846494526ORPHA12228772610652
HP:0008936HP:0009062Infantile axial hypotonia1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM12228772610652
HP:0008936HP:0009062Infantile axial hypotonia1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0008936HP:0009062Infantile axial hypotonia1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0008936HP:0009062Infantile axial hypotonia1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM14028213610662
HP:0008936HP:0009062Infantile axial hypotonia1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0008936HP:0009062Infantile axial hypotonia1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0008936HP:0009062Infantile axial hypotonia1PNPO CL E G H5516379096ORPHA131730260603287
HP:0008936HP:0009062Infantile axial hypotonia1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0008936HP:0009062Infantile axial hypotonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0008936HP:0009062Infantile axial hypotonia1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0008936HP:0009062Infantile axial hypotonia1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM119114244602207
HP:0008936HP:0009062Infantile axial hypotonia1RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM167117168609275
HP:0008936HP:0009062Infantile axial hypotonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0008936HP:0009062Infantile axial hypotonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0008936HP:0009062Infantile axial hypotonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0008936HP:0009062Infantile axial hypotonia1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0008936HP:0009062Infantile axial hypotonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0008936HP:0009062Infantile axial hypotonia1SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM174615925606754
HP:0008936HP:0009062Infantile axial hypotonia1SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM168523089608305
HP:0008936HP:0009062Infantile axial hypotonia1SLC18A2 CL E G H6571352649ORPHA118310935193001
HP:0008936HP:0009062Infantile axial hypotonia1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0008936HP:0009062Infantile axial hypotonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0008936HP:0009062Infantile axial hypotonia1SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM118214409606521
HP:0008936HP:0009062Infantile axial hypotonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0008936HP:0009062Infantile axial hypotonia1SLC39A14 CL E G H23516617013Hypermanganesemia with dystonia 2617013C4310765OMIM127020858608736
HP:0008936HP:0009062Infantile axial hypotonia1SLC6A3 CL E G H6531238455ORPHA158311049126455
HP:0008936HP:0009062Infantile axial hypotonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM158311049126455
HP:0008936HP:0009062Infantile axial hypotonia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM126911056601019
HP:0008936HP:0009062Infantile axial hypotonia1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM16525763613176
HP:0008936HP:0009062Infantile axial hypotonia1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM137811190602229
HP:0008936HP:0009062Infantile axial hypotonia1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM118119613940
HP:0008936HP:0009062Infantile axial hypotonia1SPR CL E G H669770594ORPHA119811257182125
HP:0008936HP:0009062Infantile axial hypotonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0008936HP:0009062Infantile axial hypotonia1TARS2 CL E G H80222615918Combined oxidative phosphorylation deficiency 21615918C4014668OMIM124130740612805
HP:0008936HP:0009062Infantile axial hypotonia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM196711782191290
HP:0008936HP:0009062Infantile axial hypotonia1TMTC3 CL E G H160418617255Lissencephaly 8617255C4310646OMIM119226899617218
HP:0008936HP:0009062Infantile axial hypotonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0008936HP:0009062Infantile axial hypotonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0008936HP:0009062Infantile axial hypotonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0008936HP:0009062Infantile axial hypotonia1TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM132020772602661
HP:0008936HP:0009062Infantile axial hypotonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0008936HP:0009062Infantile axial hypotonia1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM122814583608549
HP:0008936HP:0009062Infantile axial hypotonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0008936HP:0009062Infantile axial hypotonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0008936HP:0009062Infantile axial hypotonia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008936HP:0008936Muscular hypotonia of the trunk0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0008936HP:0008936Muscular hypotonia of the trunk0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM036618621606977
HP:0008936HP:0008936Muscular hypotonia of the trunk0DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0008936HP:0008936Muscular hypotonia of the trunk0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0008936HP:0008936Muscular hypotonia of the trunk0ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0008936HP:0008936Muscular hypotonia of the trunk0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0008936HP:0008936Muscular hypotonia of the trunk0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM04703518605744
HP:0008936HP:0008936Muscular hypotonia of the trunk0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0008936HP:0008936Muscular hypotonia of the trunk0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM031613478608047
HP:0008936HP:0008936Muscular hypotonia of the trunk0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0008936HP:0009062Infantile axial hypotonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0008936HP:0009062Infantile axial hypotonia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM036618621606977
HP:0008936HP:0009062Infantile axial hypotonia1DNAJC12 CL E G H56521617384Hyperphenylalaninemia, mild, non-bh4-deficient617384C4479270OMIM011528908606060
HP:0008936HP:0009062Infantile axial hypotonia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0008936HP:0009062Infantile axial hypotonia1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0008936HP:0009062Infantile axial hypotonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0008936HP:0009062Infantile axial hypotonia1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM04703518605744
HP:0008936HP:0009062Infantile axial hypotonia1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM02622888601255
HP:0008936HP:0009062Infantile axial hypotonia1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM031613478608047
HP:0008936HP:0009062Infantile axial hypotonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144


Genes (113) :ABCC8 ADAR ADCY5 AIMP1 ALG3 ALG6 AMPD2 AP3D1 AP4S1 ARX ASNS ATAD3A CACNA1E CASK CHMP1A COG4 COG6 COL11A2 COL2A1 COL4A3BP DARS DCX DDC DNAJC12 EIF2S3 ELP2 EMC1 EXOSC3 EXTL3 FAM126A FGF12 GCK GFER GFM1 GJC2 GLYCTK GM2A GPHN GRIN2D HACE1 HTT IER3IP1 IFIH1 INS KCNJ11 KIDINS220 KIF1A LIPT1 MBOAT7 MECP2 MRPS22 NALCN NDUFB11 NDUFS2 NECAP1 NEDD4L NEXMIF NHLRC2 NSMCE3 NSUN2 OCLN OPA1 OSTM1 PAFAH1B1 PAM16 PCCA PCCB PCDH12 PCLO PDE10A PDX1 PIGA PIGY PIK3R2 PLCB1 PNPO PTS PYCR2 RAB18 RAB3GAP2 RARS RNASEH2A RNASEH2B RNASEH2C RNU12 RUSC2 RYR1 SAMHD1 SLC13A5 SLC18A2 SLC19A3 SLC25A19 SLC30A9 SLC39A14 SLC6A3 SLC6A9 SMG9 SOX10 SPATA5 SPR TARS2 TH TMTC3 TREX1 TSEN2 TUBB3 TUBB4A UBE3B VPS11 VPS13D WARS2 WDR73 WWOX

Diseases (115) :79134 606176 51 324588 606703 260600 601110 603147 615809 617050 614067 308350 615574 496790 617183 618285 300749 614961 263501 613489 614576 3450 616351 615281 300067 608643 617384 300148 617270 616875 614678 617425 610532 617166 609060 608804 220120 272750 615501 617162 464282 617435 614231 615846 617296 614255 616299 617188 300673 611719 615419 300952 618228 615833 617201 300912 618278 617241 611091 251290 616896 259720 607432 613320 606054 251280 608027 494526 616921 300868 616809 603387 613722 79096 610090 261640 616420 614222 614225 617773 612952 615905 352649 618049 607483 607196 617595 617013 238455 613135 617301 616920 611584 616577 70594 612716 615918 605407 617255 225750 612389 614039 612438 244450 616683 607317 617710 251300 616211 330054 309246 438114 512260 424107 300570
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.