The number of patients with associated SCD, NF1, Down syndrome, cranial radiation, congenital cardiac abnormality, renal artery stenosis, ACTA2 mutation, and Alagille syndrome were 131 (42.5%), 47 (15.3%), 40 (13.0%), 24 (7.8%), 18 (5.8%), 6 (1.9%), 3 (1.0%), and 3 (1.0%), respectively. The gene discussed is NF1; the disease is Down syndrome.