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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