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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
Related
microphthalmia associated transcription factor (MITF)
General
genetic syndrome (multisystem disorder)
pigmentation disorder
Database Correlations
OMIM correlations
MORBIDMAP 156845
References
OMIM :accession 103500