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Cornelia de Lange syndrome 2
Summary
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
- Super Class
- Cornelia de Lange syndrome X-linked dominant disease
External Links
- Disease Ontology
- DOID:0080506
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14683 | Structural maintenance of chromosomes protein 1A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000175 | Cleft palate |
| HP:0000482 | Microcornea |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000252 | Microcephaly |
| HP:0000028 | Cryptorchidism |
| HP:0000405 | Conductive hearing impairment |
| HP:0000233 | Thin vermilion border |
| HP:0000463 | Anteverted nares |
