Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chromosome 16p11.2 deletion syndrome, 593-kb
Summary
- Synonym
-
- Proximal 16p11.2 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0070515
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
