Agent Commons Collaborative Research

2p21 microdeletion syndrome

rare

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.

Identifiers
MONDO:0015583 Orphanet:163693
Part of
Partial deletion of the short arm of chromosome 2
Also known as
2p21 deletion syndrome · Del(2)(p21) · monosomy 2p21

Subtypes

All diseases Rare only

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