Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental isodisomy: A case report

Take home points: 

1. ARFGEF1 is associated with an autosomal dominant neurodevelopmental disorder; this case report documents the first homozygous pathogenic ARFGEF1 case with a severe, prenatal presentation.
2. This highlights the potential for prenatal exome to identify ultra rare, severe conditions which may not be ascertained in a postnatal cohort.