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chromosome 16p12.1 deletion syndrome, 520kb

Disease Summary
Associated Targets ()

Mondo Description A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.
Mondo Term and Equivalent IDs
MONDO:0007631:  chromosome 16p12.1 deletion syndrome, 520kb
DOID:0060399: chromosome 16p12.1 deletion syndrome, 520kb
MESH:C565001: 
NCIT:C129875: 
OMIM:136570: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB