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Entry Name Description Category Pathway Gene
H02659 Dentici-Novelli neurodevelopmental syndrome ... neurodevelopmental syndrome is a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. It has been reported that mutations in ZNF526 cause this disease. Congenital malformation ZNF526 [HSA:116115] [KO:K26978]
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