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chromosome 22q11.2 microduplication syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.
Mondo Term and Equivalent IDs
MONDO:0012020:  chromosome 22q11.2 microduplication syndrome
DOID:0060436: chromosome 22q11.2 microduplication syndrome
GARD:0010557: 
MESH:C567224: 
OMIM:608363: CHROMOSOME 22q11.2 DUPLICATION SYNDROME
Orphanet:1727: 
SCTID:699311001: 
UMLS:C2675369: