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WDR45 - WD repeat domain 45
- Synonym(s) : JM5, NBIA5, neurodegeneration with brain iron accumulation 5, WIPI4
- Previous symbols and names : WD repeat domain, X-linked 1, WDRX1
- Type : gene with protein product
- Chromosomal location : Xp11.23
- OMIM: 300526
- HGNC: 28912
- UniProtKB: Q9Y484
- Genatlas: WDR45
- GenCC: WDR45
- Ensembl: ENSG00000196998
- IUPHAR-DB: -
- Reactome: Q9Y484
- LOVD: WDR45
Diseases list
- Disease-causing germline mutation(s) in Beta-propeller protein-associated neurodegeneration
ORPHA:329284 
- Disease-causing germline mutation(s) in Infantile spasms syndrome
ORPHA:3451
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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