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Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. [from SNOMEDCT_US]
Hypercholesterolemia
An increased concentration of cholesterol in the blood. [from HPO]
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