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Oculocutaneous albinism type 1B

Disease definition

Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.

ORPHA:79434

  • Synonym(s):
    • OCA1B
    • Oculocutaneous albinism, Amish type
    • Platinum oculocutaneous albinism
    • Yellow oculocutaneous albinism
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 606952
  • UMLS: C1847024
  • MeSH: C537729
  • GARD: 594
  • MedDRA: -

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