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Cornelia de Lange syndrome 3
Summary
- Synonym
-
- CDLS3
- Cornelia De Lange syndrome 3 with or without midline brain defects
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
- Super Class
- Cornelia de Lange syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080507
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
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:0002007 | Frontal bossing |
| HP:0002465 | Poor speech |
| HP:0002996 | Limited elbow movement |
| HP:0005484 | Secondary microcephaly |
| HP:0009237 | Short 5th finger |
| HP:0011230 | Laterally extended eyebrow |
| HP:0011451 | Primary microcephaly |
| HP:0012368 | Flat face |
| HP:0100543 | Cognitive impairment |
| HP:0100874 | Thick hair |
