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chromosome 14q11-q22 deletion syndrome

Disease Summary
Associated Targets ()

Mondo Description 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0013272:  chromosome 14q11-q22 deletion syndrome
Orphanet:261120: 
SCTID:719047001: 
UMLS:C3150707: 
UMLS:C4304999: