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auriculocondylar syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.
Uniprot Description A 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.