intellectual disability, autosomal dominant 1

Rare Disease

MONDO:0007974

Also Known As

MBD5 autosomal dominant non-syndromic intellectual disabilityMRD1autosomal dominant intellectual disability 1autosomal dominant mental retardation 1autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5intellectual disability, autosomal dominant 1intellectual disability, autosomal dominant type 1mental retardation, autosomal dominant type 1autosomal dominant non-syndromic intellectual disability 1chromosome 2Q23.1 deletion syndromemental retardation, 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.