17q11.2 microduplication syndrome

Definition

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

Also known as chromosome 17q11.2 duplication syndrome, 1.4-mb, dup(17)(q11.2), Grisart-Destree syndrome, Nf1 Microduplication Syndrome, trisomy 17q11.2 — per MONDO

Also identified as

• OMIM 618874 per MONDO
• Orphanet 139474 per MONDO
• SCTID 719583002 per MONDO
• UMLS C3495679 per MONDO