Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Myoclonus (HP:0001336)help
..Starting node
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Limb myoclonus (HP:0045084)help
Term ID: 45084
Name: Limb myoclonus
Synonym: Myoclonus of limbs
Definition:
Comments:
Reference: HP:0045084
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChin myoclonus (HP:0012462) help
..expandCortical myoclonus (HP:0040148) help
..expandErratic myoclonus (HP:0025357) help
..expandEyelid myoclonus (HP:0025097) help
..expandMorning myoclonic jerks (HP:0007000) help
..expandMyoclonic spasms (HP:0003739) help
..expandPalatal tremor (HP:0010530) help
..expandSleep myoclonus (HP:0012323) help
..expandSpinal myoclonus (HP:0010531) 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:0045084HP:0045084Limb myoclonus0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0045084HP:0045084Limb myoclonus0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0045084HP:0045084Limb myoclonus0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare75
HP:0045084HP:0045084Limb myoclonus0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0045084HP:0045084Limb myoclonus0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0045084HP:0045084Limb myoclonus0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0045084HP:0045084Limb myoclonus0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0045084HP:0045084Limb myoclonus0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare134
HP:0045084HP:0045084Limb myoclonus0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare57
HP:0045084HP:0045084Limb myoclonus0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare139
HP:0045084HP:0045084Limb myoclonus0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare
HP:0045084HP:0045084Limb myoclonus0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional528
HP:0045084HP:0045084Limb myoclonus0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0045084HP:0045084Limb myoclonus0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional302
HP:0045084HP:0045084Limb myoclonus0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0045084HP:0045084Limb myoclonus0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0045084HP:0045084Limb myoclonus0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0045084HP:0045084Limb myoclonus0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0045084HP:0045084Limb myoclonus0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0045084HP:0045084Limb myoclonus0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0045084HP:0045084Limb myoclonus0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0045084HP:0045084Limb myoclonus0PRDX3 CL E G H109359354OMIM:619862
HP:0045084HP:0045084Limb myoclonus0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040283 - Occasional69
HP:0045084HP:0045084Limb myoclonus0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional94
HP:0045084HP:0045084Limb myoclonus0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional427
HP:0045084HP:0045084Limb myoclonus0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional357
HP:0045084HP:0045084Limb myoclonus0SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0045084HP:0045084Limb myoclonus0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0045084HP:0045084Limb myoclonus0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare255
HP:0045084HP:0045084Limb myoclonus0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0045084HP:0045084Limb myoclonus0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0045084HP:0045084Limb myoclonus0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47


Genes (29) :ABCD1 ASAH1 CACNA1H CDKL5 CPLX1 DRD2 GABBR2 GABRA1 GABRB3 GABRG2 JRK KCNQ2 KCNQ3 KCTD17 KCTD7 MAPT MECP2 NOP56 NTNG1 PRDX3 PRNP PRRT2 SCN2A SCN8A SGCE SLC2A1 SMC1A TBC1D24 TOR1A

Diseases (14) :ORPHA:139396 ORPHA:2590 ORPHA:64280 ORPHA:3095 ORPHA:352582 ORPHA:36899 ORPHA:306 ORPHA:1949 ORPHA:263516 ORPHA:240103 ORPHA:276198 OMIM:619862 ORPHA:356 OMIM:618364
 

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