Clinical features
Individuals with PI4KA-associated disorders can have a variable clinical phenotype, ranging from a severe neurodevelopmental disorder of neonatal onset associated with hypomyelinating leukodystrophy and pontocerebellar hypoplasia (or polymicrogyria in some cases) to spastic paraparesis beginning in adolescence.
In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia, combined immunodeficiency and/or abnormalities of the genitourinary system.

The prevalence of PI4KA-associated disorders cannot be ascertained because of the limited number of cases identified to date (only 19 families have been reported in the literature).

PI4KA-associated disorders are inherited in an autosomal recessive manner.