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Entry Name Description Category Pathway Gene
H02465 Weiss-Kruszka syndrome ... dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency of ZNF462 is associated with this syndrome. Congenital malformation ZNF462 [HSA:58499] [KO:K24853]
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