chromosome 17q11.2 deletion syndrome (DOID:0060403)
Alliance: disease page
Synonyms: 17q11 microdeletion syndrome; neurofibromatosis type 1 microdeletion syndrome; NF1 microdeletion syndrome; Van Asperen syndrome
Alt IDs: OMIM:613675, ICD10CM:Q85.0, MESH:C563524, ORDO:97685
Definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.