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Intellectual disability, autosomal dominant 1
rareAn 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.
- Identifiers
- MONDO:0007974 OMIM:156200
- Causal genes
- MBD5
- Also known as
- autosomal dominant intellectual disability 1 · autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5 · intellectual disability, autosomal dominant type 1 · MBD5 autosomal dominant non-syndromic intellectual disability · mental retardation, autosomal dominant 1
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