Chromosome 17q11.2 deletion syndrome, 1.4Mb
Chromosome 17q11.2 deletion syndrome, 1.4Mb
Definition
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, chromosome 17q11.2 deletion syndrome, chromosome 17q11.2 deletion syndrome, 1.4-MB, Del(17)(q11), macrocephaly, macrosomia, and facial dysmorphism syndrome, MMFD, monosomy 17q11, neurofibromatosis 1 microdeletion syndrome, neurofibromatosis type 1 microdeletion syndrome, NF1 microdeletion syndrome, overgrowth-macrocephaly-facial dysmorphism syndrome, RNF135-related overgrowth syndrome, Van Asperen syndrome — per MONDO