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Minimal pigment oculocutaneous albinism type 1

Disease definition

Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.

ORPHA:352734

  • Synonym(s):
    • MP OCA type 1
    • OCA1-MP
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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