Intellectual disability, autosomal dominant 43

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.

Also known as autosomal dominant intellectual disability 43, autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2, HIVEP2 autosomal dominant non-syndromic intellectual disability, intellectual disability, autosomal dominant 43, intellectual disability, autosomal dominant type 43, mental retardation, autosomal dominant 43, mental retardation, autosomal dominant type 43, MRD43 — per MONDO

Also identified as

• DOID 0070073 per MONDO
• OMIM 616977 per MONDO
• SCTID 765434008 per MONDO
• UMLS C4707429 per MONDO