OnlineIMD

AP3D1 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • AP3D1 / adaptor related protein complex 3 delta 1 subunit
      • 19p13.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Adaptor protein complex 3 subunit delta-1
  • Disease group(s)
    • 19.6.3    Disorders of the adaptor protein complexes
  • Child entries
    • Hermansky-Pudlak syndrome type 10
    • X-linked recessive ocular albinism
    • Ocular albinism with late-onset sensorineural deafness