Visualize Submit Comment

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 MIM:159900 ORDO:36899
Subsets	DO_rare_slim
Parent Relationships	is_a myoclonic dystonia is_a autosomal dominant disease