label: Bohring-Opitz Syndrome
label_lc: bohring-opitz syndrome
description: 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.