Intellectual disability, autosomal dominant 5

Definition

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.

Also known as autosomal dominant intellectual disability 5, autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1, epilepsy due to SYNGAP mutations, intellectual disability, autosomal dominant 5, intellectual disability, autosomal dominant type 5, mental retardation, autosomal dominant type 5, MRD5, SYNGAP1 autosomal dominant non-syndromic intellectual disability, SYNGAP1-related developmental and epileptic encephalopathy — per MONDO

Also identified as

• DOID 0070035 per MONDO
• MESH C567234 per MONDO
• OMIM 612621 per MONDO
• Orphanet 544254 per MONDO
• UMLS C2675473 per MONDO