Intellectual disability, autosomal dominant 11

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.

Also known as autosomal dominant intellectual disability 11, autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1, EPB41L1 autosomal dominant non-syndromic intellectual disability, intellectual developmental disorder, autosomal dominant 11, intellectual disability, autosomal dominant 11, intellectual disability, autosomal dominant type 11, mental retardation, autosomal dominant type 11, MRD11 — per MONDO

Also identified as

• DOID 0070041 per MONDO
• OMIM 614257 per MONDO
• UMLS C3280285 per MONDO