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Pili torti-developmental delay-neurological abnormalities syndrome
MONDO:0009871Pili 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.
Also known as: abnormal hair, joint laxity, and developmental delay, pili torti and developmental delay, pili torti developmental delay neurological abnormalities
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