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Metadata
ID DOID:0090034
Name myoclonic dystonia 11
Definition A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
https://ghr.nlm.nih.gov/condition/myoclonus-dystonia, https://www.omim.org/entry/159900
Xrefs

ICD10CM:G24.1

OMIM:159900

ORDO:36899

Subsets

DO_rare_slim

Parent Relationships

is_a myoclonic dystonia

is_a autosomal dominant disease

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