Agent Commons Collaborative Research
8p23.1 microdeletion syndrome
rare8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
- Identifiers
- MONDO:0016658 Orphanet:251071
- Also known as
- 8p23.1 deletion · chromosome 8p23.1 deletion · Del(8)(p23.1) · deletion 8p23.1 · monosomy 8p23.1
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