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Microduplication Xp11.22p11.23 syndrome

ORPHA:217377· ICD-10 Q99.8

Definition

Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

Prevalence
<1 / 1 000 000
Inheritance
Not applicable, X-linked dominant
Age of onset
Infancy, Neonatal