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Genetic diseases
Cohen syndrome
autosomal dominant polycystic kidney disease
dominant optic atrophy
SPG7-associated hereditary spastic paraplegia
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adrenal calcifications
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hypertrophy of the retinal pigment epithelium
congenital hypertrophy of the retinal pigment epithelium
Etiology
familial adenomatous polyposis
(FAP)
APC
germline mutations
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