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pili torti-developmental delay-neurological abnormalities syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009871:  pili torti-developmental delay-neurological abnormalities syndrome
GARD:0004362: 
MESH:C537398: 
Orphanet:2891: 
UMLS:C1849811: