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. The disease is distal Xq28 microduplication syndrome (MONDO_0017404, a Monarch Disease Ontology term). Also known as: Xq28 Microduplication, distal dup(X)q(28), distal trisomy Xq28.