KCND2-related neurodevelopmental disorder with or without seizures

A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms.

0 clinical trials for this condition and its sub-types, 0 tagged with KCND2-related neurodevelopmental disorder with or without seizures itself.