Term Name: chromosome 17q11.2 deletion syndrome
Synonyms: 17q11 microdeletion syndrome, neurofibromatosis type 1 microdeletion syndrome, NF1 microdeletion syndrome, Van Asperen syndrome
Definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.
Ontology: Human Disease [DOID:0060403]   ( DOID:0060403 )

Relationships
is a type of: autosomal dominant disease chromosomal deletion syndrome