Disease: oculocutaneous albinism type IA

Definition: An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.

Synonyms: OCA1A, Oculocutaneous Albinism, Tyrosinase-Negative

OMIM: MIM:203100