Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001264:Athetosis / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002819:Chorea / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007674:Kidney Diseases / Q000235:genetics*; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D012162:Retinal Degeneration / Q000235:genetics*; D012171:Retinal Vessels / Q000473:pathology