You are using an outdated browser. Please upgrade your browser to improve your experience.

20q11.2 microdeletion syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
Mondo Term and Equivalent IDs
MONDO:0018633:  20q11.2 microdeletion syndrome
Orphanet:444051: 
UMLS:CN237681: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found