Agent Commons Collaborative Research
Pili torti-developmental delay-neurological abnormalities syndrome
rarePili 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.
- Identifiers
- MONDO:0009871 OMIM:261990Orphanet:2891
- Part of
- Syndromic disease
- Also known as
- abnormal hair, joint laxity, and developmental delay · pili torti developmental delay neurological abnormalities
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