The molecular genetic diagnoses in these patients included the following: Dent disease (CLCN5, n = 11), Lowe syndrome (OCRL, n = 4), methylmalonic aciduria with homocysteinemia CblC type (MMACHC, n = 7), NPHP (NPHP3, n = 1; WDR19, n = 1; CC2D2A, n = 1; IFT172, n = 1), Fabry disease (GLA, n = 2), monogenic podocytopathies (NPHS2, n = 1; MYH9, n = 1; COQ2, n = 1; LAMB2, n = 1; CUBN, n = 1; LMX1B, n = 1; UMOD, n = 1; TTC21B, n = 1), C3 nephropathy (CFHR5, n = 1). The gene discussed is NPHS2; the disease is Methylmalonic aciduria.