Pili torti developmental delay neurological abnormalities
Alternate names
Pili torti and developmental delay
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.
NIH genetic and rare disease info
Pili torti developmental delay neurological abnormalities is a rare disease.
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Frequently asked questions
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