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Cornelia de Lange syndrome 3
Summary
- Synonym
-
- CDLS3
- Cornelia De Lange syndrome 3 with or without midline brain defects
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
- Super Class
- Cornelia de Lange syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080507
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000072 | Hydroureter |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000319 | Smooth philtrum |
| HP:0000324 | Facial asymmetry |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000414 | Bulbous nose |
| HP:0000426 | Prominent nasal bridge |
| HP:0000579 | Nasolacrimal duct obstruction |
| HP:0000691 | Microdontia |
