distal Xq28 microduplication syndrome
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:0010436
chromosome Xq28 duplication syndrome
is_a
Xq28 Microduplication
exact
distal dup(X)q(28)
exact
distal trisomy Xq28
exact