Term Name: chromosome 16p11.2 deletion syndrome, 593-kb
Synonyms: Proximal 16p11.2 microdeletion syndrome
Definition: A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
Ontology: Human Disease [DOID:0070515]   ( DOID:0070515 )

Relationships
is a type of: chromosomal deletion syndrome