[Alport's syndrome with mental retardation and purine metabolism disorders].
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D014527:Uric Acid / Q000378:metabolism*
D014527:Uric Acid
Zespół Alporta z niedorozwojem umysłowym i zaburzeniami przemiany purynowej.