| Main clinical features
|
neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination
profoundly delayed psychomotor development, and spasticity, and seizures
brain imaging showed hypoplasia or atrophy of the cerebellum with a fluid-filled posterior fossa and flattening of the ventral part of the pons, and also generalized atrophy of the cerebral cortex and severe corpus callosum hypoplasia |