Human genes for cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome [DOID:0060233]
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.
Synonyms: cardiofaciocutaneous syndrome, cardiofaciocutaneous disease, cardiofaciocutaneous disorder, cardiofaciocutaneous syndromes, DOID:0060233 ...