ocular albinism with sensorineural deafness

An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF

An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.

Also known as: WS2-OA; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism