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Cornelia de Lange syndrome 4
Summary
- Synonym
-
- CDLS4
- Cornelia De Lange syndrome 4 with or without midline brain defects
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
- Super Class
- Cornelia de Lange syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080508
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001956 | Truncal obesity |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002021 | Pyloric stenosis |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002162 | Low posterior hairline |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002230 | Generalized hirsutism |
| HP:0002360 | Sleep abnormality |
| HP:0002553 | Highly arched eyebrow |
