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hair defect with photosensitivity and intellectual disability syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0022316:  hair defect with photosensitivity and intellectual disability syndrome
SCTID:721007005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found