| Metadata | |
|---|---|
| ID | DOID:0090036 |
| Name | myoclonic dystonia 26 |
| Definition | A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. https://www.omim.org/entry/616398, https://ghr.nlm.nih.gov/condition/myoclonus-dystonia |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a myoclonic dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |