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auriculocondylar syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.
Uniprot Description An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.
Mondo Term and Equivalent IDs
MONDO:0011234:  auriculocondylar syndrome 1