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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Severe muscular hypotonia (HP:0006829)help
Term ID: 6829
Name: Severe muscular hypotonia
Synonym: Hypotonia, severe; Severely decreased muscle tone
Definition: A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
Comments:
Reference: HP:0006829
Genes and Diseases:
 
       Child Nodes:

 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
..expandMuscular hypotonia of the trunk (HP:0008936) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006829HP:0006829Severe muscular hypotonia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0006829HP:0006829Severe muscular hypotonia0ACTA1 CL E G H58171433ORPHA1506129102610
HP:0006829HP:0006829Severe muscular hypotonia0ACTA1 CL E G H58171430ORPHA1506129102610
HP:0006829HP:0006829Severe muscular hypotonia0AIFM1 CL E G H9131238329ORPHA15758768300169
HP:0006829HP:0006829Severe muscular hypotonia0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM158728596610194
HP:0006829HP:0006829Severe muscular hypotonia0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0006829HP:0006829Severe muscular hypotonia0BICD2 CL E G H23299618291618291618291OMIM174017208609797
HP:0006829HP:0006829Severe muscular hypotonia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM11971071112262
HP:0006829HP:0006829Severe muscular hypotonia0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0006829HP:0006829Severe muscular hypotonia0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM18728033616735
HP:0006829HP:0006829Severe muscular hypotonia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0006829HP:0006829Severe muscular hypotonia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11563006603564
HP:0006829HP:0006829Severe muscular hypotonia0FKBP14 CL E G H55033300179ORPHA122018625614505
HP:0006829HP:0006829Severe muscular hypotonia0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM195017997606596
HP:0006829HP:0006829Severe muscular hypotonia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0006829HP:0006829Severe muscular hypotonia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0006829HP:0006829Severe muscular hypotonia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0006829HP:0006829Severe muscular hypotonia0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0006829HP:0006829Severe muscular hypotonia0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM127127302615316
HP:0006829HP:0006829Severe muscular hypotonia0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM13196176147520
HP:0006829HP:0006829Severe muscular hypotonia0KIF1A CL E G H5472836ORPHA12622888601255
HP:0006829HP:0006829Severe muscular hypotonia0KLHL40 CL E G H131377171430ORPHA146630372615340
HP:0006829HP:0006829Severe muscular hypotonia0KLHL41 CL E G H10324171430ORPHA129416905607701
HP:0006829HP:0006829Severe muscular hypotonia0KLHL41 CL E G H10324171433ORPHA129416905607701
HP:0006829HP:0006829Severe muscular hypotonia0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM17866511603590
HP:0006829HP:0006829Severe muscular hypotonia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0006829HP:0006829Severe muscular hypotonia0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM118146636150330
HP:0006829HP:0006829Severe muscular hypotonia0LMOD3 CL E G H56203171430ORPHA13926649616112
HP:0006829HP:0006829Severe muscular hypotonia0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13926649616112
HP:0006829HP:0006829Severe muscular hypotonia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0006829HP:0006829Severe muscular hypotonia0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM16077225159440
HP:0006829HP:0006829Severe muscular hypotonia0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0006829HP:0006829Severe muscular hypotonia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM18633778615345
HP:0006829HP:0006829Severe muscular hypotonia0NEB CL E G H4703171430ORPHA185307720161650
HP:0006829HP:0006829Severe muscular hypotonia0NEB CL E G H4703171433ORPHA185307720161650
HP:0006829HP:0006829Severe muscular hypotonia0PEX1 CL E G H5189912ORPHA115378850602136
HP:0006829HP:0006829Severe muscular hypotonia0PEX10 CL E G H5192912ORPHA18038851602859
HP:0006829HP:0006829Severe muscular hypotonia0PEX11B CL E G H8799912ORPHA14158853603867
HP:0006829HP:0006829Severe muscular hypotonia0PEX12 CL E G H5193912ORPHA14598854601758
HP:0006829HP:0006829Severe muscular hypotonia0PEX13 CL E G H5194912ORPHA14978855601789
HP:0006829HP:0006829Severe muscular hypotonia0PEX13 CL E G H5194614883Peroxisome biogenesis disorder 11A614883C3554000OMIM14978855601789
HP:0006829HP:0006829Severe muscular hypotonia0PEX14 CL E G H5195912ORPHA14748856601791
HP:0006829HP:0006829Severe muscular hypotonia0PEX16 CL E G H9409912ORPHA14708857603360
HP:0006829HP:0006829Severe muscular hypotonia0PEX19 CL E G H5824912ORPHA13799713600279
HP:0006829HP:0006829Severe muscular hypotonia0PEX2 CL E G H5828912ORPHA14639717170993
HP:0006829HP:0006829Severe muscular hypotonia0PEX26 CL E G H55670912ORPHA152222965608666
HP:0006829HP:0006829Severe muscular hypotonia0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM152222965608666
HP:0006829HP:0006829Severe muscular hypotonia0PEX3 CL E G H8504912ORPHA13588858603164
HP:0006829HP:0006829Severe muscular hypotonia0PEX5 CL E G H5830912ORPHA18589719600414
HP:0006829HP:0006829Severe muscular hypotonia0PEX6 CL E G H5190912ORPHA114588859601498
HP:0006829HP:0006829Severe muscular hypotonia0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1105725985616918
HP:0006829HP:0006829Severe muscular hypotonia0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA110108967606097
HP:0006829HP:0006829Severe muscular hypotonia0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0006829HP:0006829Severe muscular hypotonia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0006829HP:0006829Severe muscular hypotonia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0006829HP:0006829Severe muscular hypotonia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM193619743607439
HP:0006829HP:0006829Severe muscular hypotonia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0006829HP:0006829Severe muscular hypotonia0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM126221176614917
HP:0006829HP:0006829Severe muscular hypotonia0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM156810979190315
HP:0006829HP:0006829Severe muscular hypotonia0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0006829HP:0006829Severe muscular hypotonia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM1148216901615950
HP:0006829HP:0006829Severe muscular hypotonia0SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM132114896606214
HP:0006829HP:0006829Severe muscular hypotonia0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0006829HP:0006829Severe muscular hypotonia0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM170511581604649
HP:0006829HP:0006829Severe muscular hypotonia0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM145611582604934
HP:0006829HP:0006829Severe muscular hypotonia0TPM3 CL E G H7170171433ORPHA134312012191030
HP:0006829HP:0006829Severe muscular hypotonia0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM121212310604501
HP:0006829HP:0006829Severe muscular hypotonia0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM163112469314370
HP:0006829HP:0006829Severe muscular hypotonia0ZDHHC15 CL E G H158866300577Mental retardation 91, X-linked300577C1845142OMIM119020342300576
HP:0006829HP:0006829Severe muscular hypotonia0ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0006829HP:0006829Severe muscular hypotonia0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006829HP:0006829Severe muscular hypotonia0ASCC1 CL E G H51008616867Spinal muscular atrophy with congenital bone fractures 2616867C4225176OMIM016524268614215
HP:0006829HP:0006829Severe muscular hypotonia0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM015316002609188
HP:0006829HP:0006829Severe muscular hypotonia0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM072228261616899
HP:0006829HP:0006829Severe muscular hypotonia0TRIP4 CL E G H9325616866Spinal muscular atrophy with congenital bone fractures 1616866C4225177OMIM021212310604501


Genes (64) :ABAT ACTA1 AIFM1 ASCC1 B3GALNT2 B4GAT1 BICD2 BMP4 CARS2 CCDC174 CCDC88A DPM2 FKBP14 FKRP FKTN GCH1 GPT2 IBA57 ITPA KIF1A KLHL40 KLHL41 LARGE1 LMNA LMOD3 MFF MPLKIP MPZ MTM1 MYMK NEB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGG PIGN PNPT1 POMGNT1 POMT1 POMT2 RMND1 SLC25A1 SLC25A12 SPEG SPTBN4 TBC1D24 TBCD TBCE TBCK TPM3 TRIP4 UBA1 ZDHHC15 ZNHIT3

Diseases (51) :613163 171430 171433 238329 616867 615181 615287 618291 607932 616672 616816 617507 615042 300179 613153 236670 233910 477673 615330 616647 2836 613154 613205 616165 617086 234050 618184 310400 254940 912 614883 614872 616917 280633 614932 253280 613150 614922 615182 612949 615959 617519 615338 617193 617207 616900 617066 616866 301830 300577 260565
 

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