Intellectual disability, autosomal dominant 34

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.

Also known as autosomal dominant intellectual disability 34, autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP, COL4A3BP autosomal dominant non-syndromic intellectual disability, intellectual developmental disorder, autosomal dominant 34, intellectual disability, autosomal dominant 34, intellectual disability, autosomal dominant type 34, mental retardation, autosomal dominant type 34, MRD34 — per MONDO

Also identified as

• DOID 0070064 per MONDO
• OMIM 616351 per MONDO
• UMLS C4225156 per MONDO