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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cerebrocostomandibular syndrome
Summary
- Synonym
-
- CCM syndrome
- CCMS
- cerebro-costo-mandibular syndrome
- rib gap defects with micrognathia
- Definition
- A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111248
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WTW3 | Conserved oligomeric Golgi complex subunit 1 |
