Abbreviations:ASD (atrial septal defect), COXPD (combined oxidative phosphorylation deficiency), EEG (electroencephalogram), HSF (human splicing finder), IPT (isopentenyltransferase), LP (likely pathogenic), MRI (magnetic resonance imaging), PVWM (periventricular white matter around temporal horn), VSD (ventricular septal defect), VUS (variant of uncertain significance), WES (whole-exome sequencing), WT (wild-type)
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