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X-linked parkinsonism-spasticity syndrome
Summary
- Synonym
-
- X-linked Parkinsonism with spasticity
- XPDS
- 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.
- Super Class
- X-linked recessive disease movement disease
External Links
- Disease Ontology
- DOID:0112105
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002067 | Bradykinesia |
| HP:0007082 | Dilated third ventricle |
| HP:0001250 | Seizure |
| HP:0006801 | Hyperactive deep tendon reflexes |
| HP:0012407 | Scissor gait |
| HP:0002322 | Resting tremor |
| HP:0000298 | Mask-like facies |
| HP:0002396 | Cogwheel rigidity |
| HP:0006956 | Lateral ventricle dilatation |
