A: The variant NC_000022.11:g.20751757T>C in gene PI4KA is classified as 'Likely_pathogenic' for Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Gastrointestinal_defects_and_immunodeficiency_syndrome_2|Spastic_paraplegia_84,_autosomal_recessive. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531|MONDO:MONDO:0030669,MedGen:C5676901,OMIM:619708|MONDO:MONDO:0030482,MedGen:C5562025,OMIM:619621,Orphanet:631079. Review status: criteria provided, single submitter.