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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chromosome 16p12.2-p11.2 deletion syndrome
Summary
- Synonym
-
- 16p11.2-p12.2 microdeletion syndrome
- 16p11.2p12.2 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060400
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 |
