Intellectual disability, autosomal dominant 6

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.

Also known as autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B, GRIN2B autosomal dominant non-syndromic intellectual disability, GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder, intellectual developmental disorder, autosomal dominant 6, with or without seizures, intellectual disability, autosomal dominant 6, intellectual disability, autosomal dominant type 6, mental retardation, autosomal dominant type 6, MRD6 — per MONDO

Also identified as

• DOID 0070036 per MONDO
• OMIM 613970 per MONDO
• Orphanet 589547 per MONDO
• UMLS C3151411 per MONDO