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Jacobsen syndrome
rareA multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
- Identifiers
- MONDO:0007838 OMIM:147791Orphanet:2308
- Part of
- Partial deletion of the long arm of chromosome 11Syndromic constitutional thrombocytopeniaSyndromic disease
- Also known as
- 11q terminal deletion disorder · Del(11)(q23.3) · Del(11)(qter) · distal deletion 11q · distal monosomy 11q
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