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Entry Name Description Category Pathway Gene
H02337 Skraban-Deardorff syndrome Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease. Congenital malformation WDR26 [HSA:80232] [KO:K22382]
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