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Dent disease Dent disease type 1 (CLCN5-related)Dent disease type 2 (OCRL-related)Lowe syndrome Nephropathic cystinosis Infantile nephropathic cystinosis Juvenile nephropathic cystinosis Primary hyperoxaluria Primary hyperoxaluria type 1 (PH1)Primary hyperoxaluria type 2 (PH2)Primary hyperoxaluria type 3 (PH3)Autosomal recessive infantile hypercalcemia Amelogenesis imperfecta-nephrocalcinosis syndrome Fabry disease Tubulopathy due to mitochondrial oxidative phosphorylation disorder Methylmalonic acidemia (without homocystinuria)Methylmalonic acidemia, Vitamin B12-responsive Methylmalonic acidemia, Vitamin B12-unresponsive Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to GLUT2 deficiency Lysinuric protein intolerance Hereditary xanthinuria Xanthinuria type I Xanthinuria type II Hypoxanthine-guanine phosphoribosyltransferase deficiency Phosphoribosylpyrophosphate synthetase superactivity LCAT deficiency Adenine phosphoribosyltransferase deficiency Galactosemia Imerslund-Gräsbeck syndrome Donnai-Barrow syndrome

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