intellectual disability, autosomal dominant 1
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.
MONDO:0100172
intellectual disability, autosomal dominant
is_a
MBD5 autosomal dominant non-syndromic intellectual disability
exact
MRD1
exact
autosomal dominant intellectual disability 1
exact
autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5
exact
intellectual disability, autosomal dominant 1
exact
intellectual disability, autosomal dominant type 1
exact
mental retardation, autosomal dominant 1
related
mental retardation, autosomal dominant type 1
exact