/chromosome 17q11.2 deletion syndrome, 1.4Mb

chromosome 17q11.2 deletion syndrome, 1.4Mb

Rare Disease

MONDO:0013357

Also Known As

17q11 microdeletion syndromeDel(17)(q11)MMFDNF1 microdeletion syndromeNF1 microduplication syndromeRNF135-related overgrowth syndromeVan Asperen syndromechromosome 17q11.2 deletion syndromechromosome 17q11.2 deletion syndrome, 1.4-MBmacrocephaly, macrosomia, and facial dysmorphism syndromemonosomy 17q11neurofibromatosis 1 microdeletion syndromeneurofibromatosis type 1 microdeletion syndromeovergrowth-macrocephaly-facial dysmorphism syndrome

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.