label: Mental Retardation, Autosomal Dominant 1
label_lc: mental retardation, autosomal dominant 1
description: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.