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Oculocutaneous albinism type 1A

MONDO:0008745

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.

Also known as: OCA1A, TYR oculocutaneous albinism, Tyr oculocutaneous albinism, oculocutaneous albinism caused by mutation in TYR, oculocutaneous albinism caused by mutation in Tyr, oculocutaneous albinism, tyrosinase-negative, tyrosinase-negative oculocutaneous albinism, albinism 1

1 clinical trial for this condition and its sub-types, 1 tagged with Oculocutaneous albinism type 1A itself.

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Sub-types of Oculocutaneous albinism type 1A

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