{"id":"AITX-40001","patient":{"genotype":[{"gene":"ACTL6B","transcript":"NM_016188.5","variant_cdna":"c.1099dup","variant_protein":"p.(Gln367ProfsTer48)","zygosity":"homozygous"}],"clinical_context":"A 3-year-old male presented with seizure onset in the first months of life, developmental delay, and impaired intellectual development."}}