Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain.
D001766:Blindness / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D004596:Electroretinography; D005260:Female; D006257:Head / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D009069:Movement Disorders / Q000150:complications; D010375:Pedigree; D010786:Photoreceptor Cells / Q000002:abnormalities / Q000473:pathology; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000473:pathology; D011859:Radiography; D012160:Retina / Q000473:pathology; D014054:Tomography