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cardiofaciocutaneous syndrome 4
Summary
- Synonym
-
- CFC4
- Definition
- A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
- Super Class
- autosomal dominant disease cardiofaciocutaneous syndrome
External Links
- Disease Ontology
- DOID:0111463
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36507 | Dual specificity mitogen-activated protein kinase kinase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001582 | Redundant skin |
| HP:0001622 | Premature birth |
| HP:0001631 | Atrial septal defect |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001642 | Pulmonic stenosis |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0002007 | Frontal bossing |
| HP:0002120 | Cerebral cortical atrophy |
