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2p13.2 microdeletion syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
Mondo Term and Equivalent IDs
MONDO:0018207:  2p13.2 microdeletion syndrome
Orphanet:363680: 
UMLS:CN204723: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found