Term Name: | chromosome 16p11.2 deletion syndrome, 593-kb |
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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 ) |