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GENATLAS PHENOTYPE

last update : 09-05-2012

Symbol	ACDS1
Location	1p13.3
Name	auriculo-condylar syndrome 1
Corresponding gene	GNAI3
Other symbol(s)	ARCND1
Main clinical features	disorder of first and second pharyngeal arches, characterized by malformed ears ('question mark ears'), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia normal hearing and normal ossicles of the middle ear
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Remark(s)