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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002162 | Low posterior hairline |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002213 | Fine hair |
| HP:0002217 | Slow-growing hair |
| HP:0002299 | Brittle hair |
| HP:0002353 | EEG abnormality |
| HP:0002650 | Scoliosis |
| HP:0002857 | Genu valgum |
| HP:0002967 | Cubitus valgus |
| HP:0003196 | Short nose |
