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Oculocutaneous albinism type 7

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Description

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

4

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    615179

  • Orphanet

    352745

  • HPO
  • Medgen

    C3808786

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