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distal Xq28 microduplication syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0017404:  distal Xq28 microduplication syndrome
Orphanet:293939: 
UMLS:CN203151: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found