All reported patients have a change in one copy of their WDR26 gene that is new in them and not inherited from either parent. There have been a number of different changes in the gene that prevent it from working properly. All reported individuals have been identified via exome sequencing, though targeted testing of only the WDR26 gene could be utilized if there is high suspicion for the condition by the clinician. SKDEAS is an autosomal dominant condition, meaning that only a change in one of two copies of the gene is needed to have features.
WDR26