DYRK1A-related intellectual disability syndrome

Definition

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.

Also known as autosomal dominant intellectual disability 7, intellectual disability, autosomal dominant type 7, mental retardation, autosomal dominant type 7, MRD7 — per MONDO

Also identified as

• DOID 0070037 per MONDO
• OMIM 614104 per MONDO
• Orphanet 464306 per MONDO
• UMLS C5568143 per MONDO