WDR26-Related Intellectual Disability or Skraban-Deardorff Syndrome is rare with only 15 individuals reported to date. However, intellectual disability and developmental delay have been described all in reported individuals. The average age of walking is about 2 years and speech is often more affected than motor skills. Most children have a happy and friendly personality, but autistic features have been seen in several individuals.
All reported individuals have had some form of seizures that are typically easy to treat with standard therapy if needed. The children can have mildly low muscle tone (floppiness). It is not uncommon for children to be described with unsteady or and/or stiff-legged walking.
Some children have also had eye differences, small differences in the way the heart forms, a gap in the roof of the mouth (cleft palate) or feeding difficulties with poor weight gain.
Many of the individuals have facial features that are a little unique. These include a prominent upper lip, wide mouth, abnormal gums, widely spaced teeth, a broad tip of the nose. These facial features don’t have medical consequences, but are useful for clinicians to recognize SKDEAS.