has material basis in germline mutation in PI4KA hereditary disease complex hereditary spastic paraplegia bilateral perisylvian polymicrogyria gastrointestinal defect and immunodeficiency syndrome human disease PI4KA-related disorder 2024-07-18T18:06:40Z https://github.com/monarch-initiative/mondo/issues/7858 MONDO:1040012 Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria. GARD:0027233