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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:0001257 | Spasticity |
| HP:0011448 | Ankle clonus |
| HP:0002313 | Spastic paraparesis |
| HP:0003487 | Babinski sign |
| HP:0001347 | Hyperreflexia |
| HP:0003677 | Slowly progressive |
| HP:0003596 | Middle age onset |
| HP:0000338 | Hypomimic face |
| HP:0001419 | X-linked recessive inheritance |
| HP:0003621 | Juvenile onset |
