| Metadata | |
|---|---|
| ID | DOID:0112105 |
| Name | X-linked parkinsonism-spasticity syndrome |
| Definition | A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. https://pubmed.ncbi.nlm.nih.gov/20629132/, https://pubmed.ncbi.nlm.nih.gov/23595882/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
X-linked Parkinsonism with spasticity [EXACT] XPDS [EXACT] |
| Parent Relationships |
is_a movement disease |