Severe early onset disorders associated with de novo mutation of RNF213 in a ring fin domain and a limited region defined by amino acids 4, 114 to 4, 120 downstream of that domain have been reported.This phenotype is characterized by early and progressive moyamoya disease in infancy or early childhood with other arterial occlusions, including the abdominal, renal, femoral and iliac arteries (15). The gene discussed is RNF213; the disease is Moyamoya disease.