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Cornelia de Lange syndrome 1
Summary
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
- Super Class
- Cornelia de Lange syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080505
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95271 | Poly [ADP-ribose] polymerase tankyrase-1 | |
| P51689 | Arylsulfatase D | |
| Q96FL9 | Polypeptide N-acetylgalactosaminyltransferase 14 | |
| 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 |
