Joubert Syndrome
Ciliopathy with cerebellar malformation and renal cysts.
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Conditions
25 results
Nail–Patella Syndrome
Nail dysplasia with glomerulopathy.
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Pierson Syndrome
Congenital nephrotic syndrome with ocular defects.
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Frasier Syndrome
Ambiguous genitalia and focal segmental glomerulosclerosis.
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Mitochondrial Cytopathies (Renal Involvement)
Defective energy metabolism causes renal tubular defects.
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Birt-Hogg-Dubé Syndrome
Skin lesions, lung cysts, and renal tumors.
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Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
FH mutation predisposing to RCC.
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Von Hippel–Lindau Disease
Tumor syndrome with renal cell carcinoma risk.
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Tuberous Sclerosis Complex
Causes renal angiomyolipomas and cysts.
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VACTERL Association
Congenital pattern of anomalies affecting vertebrae, kidneys, heart.
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