Autosomal dominant opitz syndrome

An autosomal dominant condition caused by mutation(s) in the ASXL1 gene, encoding putative polycomb group protein ASXL1. It is characterized by severe intrauterine growth retardation, profound mental retardation, craniofacial dysmorphisms, and flexion deformities of the upper limbs.

Disease Alternative Name

bohring-opitz syndrome
MainRecentTopDoctors

Trending Cases