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6p22 microdeletion syndrome

ORPHA:251046· ICD-10 Q93.5

Definition

6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.

Prevalence
<1 / 1 000 000
Inheritance
Not applicable, Unknown
Age of onset
Infancy, Neonatal