ORPHA:163693

2p21 microdeletion syndrome

Also called 2p21 deletion syndrome, Del(2)(p21), Monosomy 2p21

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:163693 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.