chromosome 16p11.2 deletion syndrome, 593-kb

Term ID

DOID:0070515

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). (2)

References

• GARD:10740
• MIM:611913
• ORDO:261197
• UMLS_CUI:C3150154
• UMLS_CUI:C4273657

Ontology

Human Disease   ( DOID:0070515 )