| 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://www.omim.org/entry/159900, https://ghr.nlm.nih.gov/condition/myoclonus-dystonia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a myoclonic dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |