Autosomal dominant type 1 porencephaly

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.

Disease Alternative Name

mental retardation
autosomal dominant 1
mrd1
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