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.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a