chromosome 16p12.1 deletion syndrome (DOID:0060399)
Alliance: disease page
Alt IDs: OMIM:136570
Definition: A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.