Figure 1.

Diagrammatic representation of Clinical features, pedigree, and sequence chromatograms of the identified pathogenic variant in the RAP1GDS1 gene. (A) Pedigree of the analyzed family members. The allelic status is given below each tested individual. Symbols are as follows: filled, affected; empty, unaffected; dotted, heterozygous carrier; black arrow, individuals subjected to whole genome sequencing (WGS). (B) Photographs showing the phenotypes of the patient. The pictures show the facial dysmorphic, global developmental delay, and hypotonia features. Written informed consent was obtained from the patient’s parents for the publication of images. (C) Segregation of the identified splice site variant (c.1444‐1G > A) in both families.