Intellectual disability, autosomal dominant 1

MONDO:0007974

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: MBD5 autosomal dominant non-syndromic intellectual disability, MRD1, 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, mental retardation, autosomal dominant type 1, autosomal dominant non-syndromic intellectual disability 1

0 clinical trials for this condition and its sub-types, 0 tagged with Intellectual disability, autosomal dominant 1 itself.

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