Distal Xq28 microduplication syndrome

Orpha code: 293939OMIM code: 300815

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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