{"id":"AITX-40004","patient":{"genotype":[{"gene":"SYT1","transcript":"NM_005639.3","variant_cdna":"c.1103T>C","variant_protein":"p.Ile368Thr","zygosity":"heterozygous"}],"clinical_context":"18-month-old female with Baker Gordon Syndrome (BAGOS) (OMIM #618218) who presented at 8 months of age with hypotonia, ophthalmic abnormalities, developmental delay, EEG abnormalities (without overt seizures) and a de novo, monoallelic SYT1 variant that likely acts via a dominant negative mechanism."}}