Disease #02202 (XPDS (Parkinsonism with spasticity, X-linked (XPDS)), OMIM:300911)

Official abbreviation XPDS
Name Parkinsonism with spasticity, X-linked (XPDS)
OMIM ID 300911
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATP6AP2
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00132793 23595882-Fam PubMed: Korvatska 2013 4-generation family, 4 affected males, unaffected heterozygous carrier females M - United States - - - - - XPDS see paper; ... ATP6AP2 ATP6AP2, MED14, PAGE5, RGN, XAGE3 5 4 Johan den Dunnen
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