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19p13.3 microduplication syndrome

ORPHA:447980· ICD-10 Q92.3

Definition

A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.

Prevalence
<1 / 1 000 000
Inheritance
Unknown
Age of onset
Antenatal, Neonatal