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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:0000954 | Single transverse palmar crease |
| HP:0001007 | Hirsutism |
| HP:0001052 | Nevus flammeus |
| HP:0001156 | Brachydactyly |
| HP:0001263 | Global developmental delay |
| HP:0001357 | Plagiocephaly |
| HP:0001476 | Delayed closure of the anterior fontanelle |
| HP:0001642 | Pulmonic stenosis |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001647 | Bicuspid aortic valve |
