Distal Xq28 microduplication syndrome

Orpha code: 293939OMIM code: 300815

Definition

A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Distal dup(X)q(28)
Dystalna dup(X)q(28)
Trisomia dystalna Xq28
Distal trisomy Xq28
Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
ORPHA code
293939
OMIM code
300815
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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