Version: 8.0.0
Date: Tue Jan 28 2025
All
All
Gene
Gene Ontology
Disease
Allele/Variant
Model
HTP Dataset Index
Home
Data and Tools
Downloads
API
AllianceMine
JBrowse 2
Submit Data
Textpresso
Tools and Prototypes
COVID-19 Information
Members
FlyBase
Mouse Genome Database
Rat Genome Database
Saccharomyces Genome Database
WormBase
Xenbase
Zebrafish Information Network
Gene Ontology Consortium
News
News and Events
Release Notes
Event Calendar
About
About Us
Funding
Publications
Organization and Governance
Privacy, Warranty, Licensing, and Data Preservation Commitment
Working Groups
Help
FAQ / Known Issues
Glossary
Tutorials
User Documentation
Community
Alliance User Community
Mastodon
Bluesky
Contact Us
Cite Us
X-linked parkinsonism-spasticity syndrome
DOID:0112105
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
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.
[1]
[2]
Synonyms
X-linked Parkinsonism with spasticity
XPDS
Cross References
MIM:300911
ORDO:363654
Parent Terms
movement disease
X-linked recessive disease
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
You need to enable JavaScript to run this app.