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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
- Mondo Disease Ontology
- OMIM
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:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0005280 | Depressed nasal bridge |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0007665 | Curly eyelashes |
| HP:0008736 | Hypoplasia of penis |
| HP:0008850 | Severe postnatal growth retardation |
| HP:0008872 | Feeding difficulties in infancy |
