| Main clinical features
|
progressive and lethal neurological disease
cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease
characterized by severe muscle weakness and failure to thrive apparent in the first months of life
affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure
brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination |