Jacobsen syndrome

Definition

A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

Also known as 11q terminal deletion disorder, Del(11)(q23.3), Del(11)(qter), distal deletion 11q, distal monosomy 11q, Jacobsen syndrome, Jacobsen syndrome, Isolated cases, monosomy 11qter, telomeric deletion 11q — per MONDO

Also identified as

• DOID 0111723 per MONDO
• NCIT C75457 per MONDO
• OMIM 147791 per MONDO
• Orphanet 2308 per MONDO
• SCTID 715438008 per MONDO
• UMLS C0795841 per MONDO