| Metadata | |
|---|---|
| ID | DOID:0060399 |
| Name | chromosome 16p12.1 deletion syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20154674 |
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