Congenital blindness or severely impaired vision secondary to defect in cones, deafness, baldness, nystagmus, acanthosis nigricans, obesity, male hypogonadism, diabetes insipidus (vasopressinresistant), and renal failure. Laboratory abnormalities include hypertriglyceridemia, hyperuricemia, and aminoaciduria. Autosomal recessive condition most commonly seen in Netherlands and Sweden.