Pili torti-developmental delay-neurological abnormalities syndrome

Orpha code: 2891OMIM code: 261990

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.

Disease data
Classification

Malformation syndrome

ORPHA code
2891
OMIM code
261990
ICD10 code
Q84.1
ICD11 code
-

No additional description.

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