Orphanet: protocadherin 19
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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
  • Ensembl: ENSG00000165194
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: PCDH19

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

Specialised Social Services

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