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chromosome 17q11.2 deletion syndrome, 1.4Mb

Disease Summary
Associated Targets (3)
Tbio

2

Tdark

1


GARD Rare
Mondo Description 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
Mondo Term and Equivalent IDs
MONDO:0013357:  chromosome 17q11.2 deletion syndrome, 1.4Mb
GARD:0005408: 
MESH:C563524: 
Orphanet:97685: