Norrie's disease.
D000015:Abnormalities, Multiple / Q000473:pathology; D001766:Blindness / Q000151:congenital* / Q000473:pathology; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010375:Pedigree; D012730:Sex Chromosomes; D014792:Visual Acuity