Trisomi Xq28

Også kjent som: Distal Xq28 microduplication syndrome
Engelsk navn: Distal Xq28 microduplication syndrome
Engelske synonym: Distal dup(X)q(28),Distal trisomy Xq28,Int22h1/Int22h2 mediated-Xq28 microduplication syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 293939
Klassifiseringsnivå: Disorder
ICD-10: Q99.8

Mer informasjon


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