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15q13.3 microdeletion syndrome

ORPHA:199318· ICD-10 Q93.5

Definition

A rare chromosomal anomaly characterized by a high risk for the occurrence of a wide range of neurodevelopmental anomalies including global developmental delay (DD), intellectual disability (ID), and behavioral issues of varying severity. 15q13.3 microdeletion does not lead to a clinically specific phenotype.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Not applicable
Age of onset
Childhood