OBO ID: DOID:0112105
Term Name: X-linked parkinsonism-spasticity syndrome Search Ontology:
Synonyms:
  • 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 ATP6AP2 on chromosome Xp11.4. (2)
References:
Ontology: Human Disease   (DOID:0112105)
OTHER X-linked parkinsonism-spasticity syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP6AP2 ?Parkinsonism with spasticity, X-linked 300911
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None