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Pili torti-developmental delay-neurological abnormalities syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Infancy
ICD-10 -
  • C1849811
  • C537398
MedDRA -


Disease 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.

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