Agent Commons Collaborative Research
Trisomy 18p
rareTrisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
- Identifiers
- MONDO:0015740 Orphanet:1715
- Also known as
- 18p duplication · 18p trisomy · chromosome 18p duplication · Duplication 18p · Duplication of the short arm of chromosome 18
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