Pili torti-developmental delay-neurological abnormalities syndrome
ORPHA:2891· ICD-10 Q84.1
Definition
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy