Main clinical features
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developmental delay, epilepsy, hypotonia, and dysmorphic features, early infantile-onset epileptic encephalopathy with hypotonia, delayed cerebral visual development, cardiomyopathy and facial dysmorphic features
characterized by early-infantile-onset epileptic encephalopathy and, often, cardiomyopathy, MRI signs of disturbed cerebral maturation and white-matter abnormalities or milder phenotype
mild phenotype has a more variable clinical expression with hypotonia and developmental delay |