Hereditary hematuria associated with mental retardation, convulsions, abnormal EEG and ocular abnormalities.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D000596:Amino Acids / Q000097:blood; D001706:Biopsy; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002849:Chromatography, Gas; D004569:Electroencephalography; D004596:Electroretinography; D005260:Female; D006417:Hematuria / Q000150:complications / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D007668:Kidney / Q000473:pathology; D008111:Liver Function Tests; D008854:Microscopy, Electron; D009216:Myopia / Q000150:complications; D009759:Nystagmus, Pathologic / Q000150:complications; D011011:Pneumoencephalography; D012162:Retinal Degeneration / Q000150:complications; D012640:Seizures / Q000150:complications*; D012886:Skull / Q000000981:diagnostic imaging; D013285:Strabismus / Q000150:complications; D013588:Syphilis Serodiagnosis; D014374:Tuberculin Test; D014567:Urography; D014786:Vision Disorders / Q000150:complications*
D000596:Amino Acids