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Distal duplication 10q syndrome

ORPHA:96102· ICD-10 Q92.3

Definition

Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal