Results 1 -
10
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35
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Nephropathy -deafness -hyperparathyroidism syndrome
- ... failure EPM4 Familial myoclonus with renal failure Myoclonus-nephropathy syndrome Progressive myoclonus epilepsy with renal failure Genetic Testing ...
- ... and more susceptible to breakage.People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement ...
- ... is sufficient to cause the disorder. DDS Drash syndrome Nephropathy, Wilms tumor, and genital anomalies Wilms tumor and pseudohermaphroditism Genetic Testing Registry: Drash syndrome Denys-Drash syndrome National Organization for Rare Disorders ( ...
- ... problems, and skeletal abnormalities.People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over ... gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 ... PubMed or Free article on PubMed Central
- ... been identified in families with a form of kidney disease called nephrotic syndrome. This condition is characterized by an inability of ...
- ... condition that affects the kidneys and genitalia.Frasier syndrome is characterized by kidney disease that begins in early childhood. Affected individuals have ...
- ... of the corpus callosum with peripheral neuropathy Polycystic kidney disease Beta thalassemia Bloom syndrome Canavan disease PMM2 -congenital disorder of glycosylation , also ...
- ... vision impairment or blindness.Some individuals with Blau syndrome develop kidney disease (nephritis) due to inflammation. They may also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic ... commonly, Blau syndrome can affect other parts of the body, including ...
- ... have been found to cause hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome, a third member of the group of conditions ...
- ... often called benign familial hematuria. Thin basement membrane nephropathy rarely progresses to kidney failure.Goodpasture syndrome is a severe disease of the lungs and ...