Trisomy 18p syndrome
ORPHA:1715· ICD-10 Q92.2
Definition
A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult, Childhood, Infancy