Townes–Brocks Syndrome
Congenital anomalies including ear, anal, and kidney malformations.
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25 results
Congenital anomalies including ear, anal, and kidney malformations.
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Autosomal recessive disorder with renal agenesis and cryptophthalmos.
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Lethal ciliopathy with cystic kidneys and brain malformations.
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Inherited disorder with fluid-filled cysts in kidneys.
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Ciliopathy causing obesity, polydactyly, and renal cysts.
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Defective phosphatidylinositol metabolism affects kidneys, eyes, brain.
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X-linked disorder causing proteinuria and kidney stones.
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Defective transport causes cystine stones.
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Overproduction of oxalate leads to stones and failure.
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Childhood disease causing fibrosis and cysts in kidneys.
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