Trisomy 18p
What is Trisomy 18p?
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.
Other condition names
- Duplication 18p
- Duplication of the short arm of chromosome 18
- Trisomy of the short arm of chromosome 18
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
- Childhood
- Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.