Orphanet: Pili torti developmental delay neurological abnormalities syndrome

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Pili torti-developmental delay-neurological abnormalities syndrome

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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: -
  • OMIM: 261990
  • UMLS: C1849811
  • MeSH: C537398
  • GARD: 4362
  • MedDRA: -
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