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thickened earlobes-conductive deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0007504:  thickened earlobes-conductive deafness syndrome
GARD:0002195: 
Orphanet:2405: 
SCTID:722476007: