Trisomy X syndrome
ORPHA:3375· ICD-10 Q97.0
Definition
A rare sex-chromosome anomaly characterized by a variable phenotype, including various degree of global developmental delay, tall stature, epicanthal folds, hypotonia, and clinodactyly in association with seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF).
- Prevalence
- 1-5 / 10 000
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy