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chromosome 16p12.1 deletion syndrome
Summary
- 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060399
- Mondo Disease Ontology
- OMIM
Related Genes
