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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:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000294 | Low anterior hairline |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000400 | Macrotia |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000413 | Atresia of the external auditory canal |
