Pathogenic variants in WDFY3 gene lead often to developmental delay in children, leading to mild to moderate intellectual deficits, delayed motor milestones, or muscular hypotonia. Some individuals with pathogenic variants in WDFY3 can have normal or just very mildly impaired development. Depending on the type of variant, affected individuals can display a large or a small head.
WDFY3-related neurodevelopmental disorder is a rare disease. So far, only about 20 patients have been reported in the medical literature and there are about 30 additional cases reported in genetic variation databases like ClinVar. We are still learning more about this condition and there is an ongoing study aiming to characterize a larger cohort of patients.