Inherited cancer-predisposing syndrome Neurocutaneous syndrome with epilepsy Genetic hyperpigmentation of the skin 17q11 microdeletion syndrome 17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies and a large number of neurofibromas. OMIM:613675 Neurofibromatosis type 1 microdeletion syndrome ICD10:Q85.0 NF1 microdeletion syndrome orphanet Del(17)(q11) Monosomy 17q11 Rare genetic renal disease Partial autosomal monosomy Malformation syndrome with hamartosis Phakomatosis with eye involvement