Tietz hypomelanosis – deafness syndrome (Q67305): Difference between revisions

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Latest revision as of 15:08, 14 August 2026

Tietz hypomelanosis - deafness syndrome is an autosomal dominant condition characterised by generalised hypomelanosis, blue eyes and profound sensorineural deafness. Affected family members gradually gain some pigmentation and have fair skin and blond to white hair as adults, with white eyebrows and eyelashes. The syndrome is due to a missense mutation in the basic region of the MITF gene.

Language	Label	Description	Also known as
default for all languages	ID_1688980852
English	Tietz hypomelanosis – deafness syndrome	Tietz hypomelanosis - deafness syndrome is an autosomal dominant condition characterised by generalised hypomelanosis, blue eyes and profound sensorineural deafness. Affected family members gradually gain some pigmentation and have fair skin and blond to white hair as adults, with white eyebrows and eyelashes. The syndrome is due to a missense mutation in the basic region of the MITF gene.