Intellectual disability, autosomal dominant 38

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.

Also known as autosomal dominant intellectual disability 38, autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2, EEF1A2 autosomal dominant non-syndromic intellectual disability, intellectual disability, autosomal dominant 38, intellectual disability, autosomal dominant type 38, mental retardation, autosomal dominant type 38, MRD38, PRELDS, psychomotor retardation, epilepsy, and language disability syndrome — per MONDO

Also identified as

• DOID 0070068 per MONDO
• OMIM 616393 per MONDO
• UMLS C4225343 per MONDO