PRJNA761889
Sequencing data for a molecular autopsy study
Four children of a family had died with Hirschsprung disease, gastroesophageal reflux disease, coarse facial features, severe global developmental delay, agenesis of corpus callosum, failure to thrive, and cataract. A transcript-level aberration in EPG5 was detected in RNA-seq data, which showed evidence of homozygous deletions including the exon 1 region of the gene.