Chromosome 17q11.2 deletion syndrome, 1.4Mb

MONDO:0013357

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.

Also known as: 17q11 microdeletion syndrome, Del(17)(q11), MMFD, NF1 microdeletion syndrome, NF1 microduplication syndrome, RNF135-related overgrowth syndrome, Van Asperen syndrome, chromosome 17q11.2 deletion syndrome

37 clinical trials for this condition and its sub-types, 0 tagged with Chromosome 17q11.2 deletion syndrome, 1.4Mb itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Neurofibromatosis type 1 (73) ↑ Partial deletion of the long arm of chromosome 17 (1)

Including sub-types (37) Tagged with Chromosome 17q11.2 deletion syndrome, 1.4Mb (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.