PI4KA-Related Disorder

[madysoncbrown]

PI4KA-Related Disorder

Synonyms: None

Parent Terms: MONDO:0030831, MONDO:0020340, MONDO:0015150

Definition:
Per GeneReviews PI4KA-related disorder is a clinically variable disorder 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.

Definition source: https://www.ncbi.nlm.nih.gov/books/NBK583038/

Children terms: MONDO:0014679, MONDO:0030482, MONDO:0030669

Working Group: https://www.clinicalgenome.org/affiliation/40020/

@ErinRiggs @elizabeth-gavrilov

[sagehrke]

Dear @madysoncbrown,
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The Mondo Team