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PCDH19 - protocadherin 19
- Synonym(s) : EIEE9, KIAA1313
- Previous symbols and names : EFMR, epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)
- Type : gene with protein product
- Chromosomal location : Xq22.1
- OMIM: 300460
- HGNC: 14270
- UniProtKB: Q8TAB3
- Genatlas: PCDH19
- GenCC: PCDH19
- Ensembl: ENSG00000165194
- IUPHAR-DB: -
- Reactome: -
- LOVD: PCDH19
Diseases list
- Disease-causing germline mutation(s) in Dravet syndrome
ORPHA:33069 
- Disease-causing germline mutation(s) in Female restricted epilepsy with intellectual disability
ORPHA:101039
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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