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chromosome 1q21.1 deletion syndrome

Disease Summary
Associated Targets (10)
Tbio

9

Tchem

1


GARD Rare
Mondo Description 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Mondo Term and Equivalent IDs
MONDO:0012914:  chromosome 1q21.1 deletion syndrome
GARD:0010813: 
Orphanet:250989: 
SCTID:699305004: