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Renal atrophy
- ... with Schimke immuno-osseous dysplasia often have kidney (renal) disease that may lead to life-threatening renal failure and end-stage renal disease (ESRD). Individuals ...
- ... Tseng CH, Axelrod F. Prevalence and severity of renal disease in familial dysautonomia. Am J Kidney Dis. ... Kaufmann H. Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens. ...
- ... of calcium in the kidneys (nephrocalcinosis) or kidney (renal) cysts.Many people with mild, moderate, or severe ... Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel ...
- ... type 1 diabetes, type 2 diabetes, hypothyroidism, kidney (renal) failure, transthyretin amyloidosis, and hereditary neuropathy with liability ...
- ... Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
- ... individuals eventually develop irreversible kidney failure (end-stage renal disease).A type of heart disease that enlarges ...
- ... reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. ...