Search Ontology:
Human Disease
chromosome 16p12.1 deletion syndrome
- Term ID
- DOID:0060399
- Synonyms
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- 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
- References
- Ontology
- Human Disease ( DOID:0060399 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models