Skraban-Deardorff Syndrome (SKDEAS)

Skraban-Deardorff Syndrome, also known as intellectual disability with seizures, abnormal gait, and distinctive facial features, is related to chromosome 1q41-q42 deletion syndrome and visual epilepsy. An important gene associated with Skraban-Deardorff Syndrome is WDR26 (WD Repeat Domain 26). Affiliated tissues include brain and pineal, and related phenotypes are intellectual disability and seizure