Intellectual disability, autosomal dominant 40

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.

Also known as autosomal dominant intellectual disability 40, autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1, CHAMP1 autosomal dominant non-syndromic intellectual disability, intellectual disability, autosomal dominant 40, intellectual disability, autosomal dominant type 40, mental retardation, autosomal dominant type 40, MRD40 — per MONDO

Also identified as

• DOID 0070070 per MONDO
• OMIM 616579 per MONDO
• Orphanet 692193 per MONDO
• UMLS C5676894 per MONDO