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.
congenital dyserythropoietic anemia type II [DOID:0111401]
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.