Term Name: | chromosome 16p12.1 deletion syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060399] ( DOID:0060399 ) |