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Trisomy 18p

Synonym(s) Duplication 18p
Duplication of the short arm of chromosome 18
Trisomy of the short arm of chromosome 18
Prevalence <1 / 1 000 000
Inheritance -
Age of onset -
  • Q92.2
  • C2931811
  • C538307
MedDRA -


Disease definition

Trisomy 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.

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