sagehrke
commented
2 days ago Dear @madysoncbrown, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!
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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