Myoclonus, familial, 2

Preferred Label : Myoclonus, familial, 2;

Symbol : MYOCL2;

CISMeF acronym : MYOCL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, voltage gated, type VIII, alpha polypeptide gene (SCN8A, 600702.0012);

Prefixed ID : #618364;

Details

Origin ID

618364;

UMLS CUI

C5193056;

Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 8 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Dystonia [HPO term]
- Intellectual disability [HPO term]
- Limb myoclonus [HPO term]
- Nonprogressive [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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