Waardenburg syndrome type 2A

Genetics

• autosomal dominant
• associated with defects in MITF

Clinical manifestations

• sensorineural hearing loss
• patches of depigmentation (piebaldism)
• features show variable expression & penetrance

More general terms

• Waardenburg syndrome type 2

Additional terms

• microphthalmia associated transcription factor (MITF)

Database

• OMIM: https://mirror.omim.org/entry/193510
• OMIM: https://mirror.omim.org/entry/156845