Синдром перекрученого волосся-затримки розвитку-неврологічних порушень
ORPHA:2891· ICD-10 Q84.1· Pili torti-developmental delay-neurological abnormalities syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy