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Entry Name Description Category Pathway Gene
H02710 Yuksel-Vogel-Bauer syndrome Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder caused by mutations in DLG5. Patients have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities ... Congenital malformation DLG5 [HSA:9231] [KO:K24050]
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