Human genes for ocular albinism with sensorineural deafness
Ocular albinism with sensorineural deafness [DOID:0090100]
An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane 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.
Synonyms: ocular albinism with sensorineural deafness, DOID:0090100, ocular albinism with sensorineural deafnesses, autosomal recessive Waardenburg syndrome type 2 with ocular albinism, digenic Waardenburg syndrome/albinism ...