Tietz albinism-deafness syndrome

Genetics

• autosomal dominant
• associated with defects in MITF
• penetrance is complete

Clinical manifestations

• albinism/generalized hypopigmentation
• complete nerve deafness
• absent eyebrows

More general terms

• genetic syndrome (multisystem disorder)
• pigmentation disorder

Additional terms

• microphthalmia associated transcription factor (MITF)

Database

• OMIM: https://mirror.omim.org/entry/103500
• OMIM: https://mirror.omim.org/entry/156845