Intellectual disability, autosomal dominant 1
Intellectual disability, autosomal dominant 1
Definition
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.
Also known as autosomal dominant intellectual disability 1, autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5, intellectual disability, autosomal dominant 1, intellectual disability, autosomal dominant type 1, MBD5 autosomal dominant non-syndromic intellectual disability, mental retardation, autosomal dominant type 1, MRD1 — per MONDO