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deafness-ear malformation-facial palsy syndrome

Disease Summary
Associated Targets ()

Mondo Description Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0007421:  deafness-ear malformation-facial palsy syndrome
MESH:C565123: 
Orphanet:3232: 
SCTID:716243005: