| Main clinical features
|
neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination
limb spasticity with hypertonia and hyperreflexia, and a severe axonal sensorimotor neuropathy confirmed by electrophysiologic studies
brain MRI showed abnormalities of differing severities, such as cortical dysgenesis, simplified gyral pattern, cerebellar vermian loss, and thinning of the brainstem |