Fig. 1

Schematic presentation of the study design. All cases with negative exome reanalysis with available cell lines were considered if they met at least two of the following criteria: the case has a positive family history for the same disease, the phenotype is established as autosomal recessive, and the parents are consanguineous. Ultramolecular weight DNA was extracted from established cell lines for each case and underwent lrWGS using PacBio technology. Autozygome-guided analysis was performed, and candidate variants were identified in 13 families. Six variants were not identified by exome or its reanalysis and presented technical challenges while the remaining seven variants presented interpretation challenges. Cons: consanguineous. Some illustrations were created using BioRender.com