Mitochondria Phenome Knowledgebase

Phenotypic Feature Myoclonus finds 23 Gene-Feature associations that are associated with 20 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Myoclonus myoclonic jerks; head; arm; leg neurologic 10407778
ABCD1 300100 Myoclonus ankle clonus; progressive neurologic 11739809 16672758
CLN3 204200 Myoclonus myoclonia neurologic 12363103
CPS1 237300 Myoclonus sustained ankle clonus neurologic 11301219
CYB5R3 250800 Myoclonus myoclonic jerks neurologic 7668255
FXN 229300 Myoclonus ankle clonus; clonus neurologic 11425956 12112211
GCDH 231670 Myoclonus ankle clonus; clonus neurologic 11174631 11825066
HD 143100 Electromyography-abnormal cocontraction of agonist and antagonist muscles; abnormal triphasic patterns; EMG patterns abnormal; electromyographic discharges; EEG myoclonus signs; spike discharges; polyspike discharges neurologic 7845404 8474490 10348461 11524486
HD 143100 Myoclonus generalized; multifocal action myoclonus; cortical reflex myoclonus; clonus; disabling myoclonus; jerky hands; jerks; blepharoclonus; cortical myoclonus neurologic 7845404 8474490 9443350 11524486 14684349 15515712
HD 143100 Seizures younger patients; convulsions; epilepsy; myoclonus epilepsy; tonic clonic seizure; epileptiform abnormalities; nonepileptiform abnormalities; electrographic seizures neurologic 7845404 9443350 9506560 11524486 12075490 14684349 15042332 15338298 15526960
HMGCL 246450 Myoclonus bilateral; ankle clonus; myoclonic jerks neurologic 1886403 9463337
HSD17B10 300438 Myoclonus episodes; stress triggered neurologic 16148061
MPV17 251880 Myoclonus hands; lower extremities neurologic 16582910
NDUFV1 252010 Myoclonus myoclonic epilepsy neurologic 10080174
PDHA1 308930 Myoclonus neurologic 8982956 9266390
POLG 203700 Myoclonus right upper limp; myoclonus achalasia neurologic 15689359 16177225 16621917
POLG 258450 Myoclonus myoclonic jerks; myoclonus; palatal myoclonus; myokymia neurologic 14694057 15477547 16638794
POLG 258450 Seizures partial epileptic seizures; epilepsy; status epilepticus; tonic clonic seizures; motor seizures; myoclonus epilepsy neurologic 15477547 16401742 16621917 16638794
POLG 607459 Myoclonus arms; titubation; myoclonic jerks; facial muscles neurologic 15824347
SDHA 252011 Myoclonus achilles clonus; jerks neurologic 16361598
SLC25A15 238970 Myoclonus bilateral; ankle neurologic 11552031
SLC25A22 609304 Myoclonus erratic; fragmentary neurologic 15592994
SPAST 182601 Myoclonus ankle clonus; nocturnal myoclonus; bilateral clonus neurologic 10699187 11134375 11266693 11723204 11843700 12124993 12202986 15197701 15667412
SUOX 272300 Myoclonus ankle; tonic myoclonic seizures; myoclonic jerks neurologic 10519592 12001203 12368985 15952210 16140720
TIMM8A 304700 Myoclonus hands; sternocleidomastoid; deltoid; pectoralis; lower extremities neurologic 11405816 12805099

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