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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cardiofaciocutaneous syndrome
Summary
- Synonym
-
- CFC syndrome
- cardio-facial-cutaneous syndrome
- Definition
- A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
- Super Class
- RASopathy monogenic disease
Related Genes
