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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |