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Townes-Brocks syndrome
Epidemiology:
- rare
Genetics:
- autosomal dominant
- associated with defects in SALL1
Clinical manifestations:
- imperforate anus
- triphalangeal & supernumerary thumbs
- malformed ears & sensorineural hearing loss
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 107480
References
OMIM :accession 107480