PI4KA-related disorder
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.
MONDO:0015150
complex hereditary spastic paraplegia
excluded_subClassOf
MONDO:0020340
bilateral perisylvian polymicrogyria
excluded_subClassOf
MONDO:0030831
gastrointestinal defect and immunodeficiency syndrome
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
SPBC577.06c