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GENATLAS PHENOTYPE
last update : 14-01-2014
Symbol ACDS3
Location 6p24.1
Name auriculo-condylar syndrome 3
Corresponding gene EDN1
Main clinical features
  • disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder ear
    osteo-articular
    Type disease
    Remark(s)