Figure 1.

A family with an isolated case of an atypical sensory and autonomic neuropathy combined with severe epileptic encephalopathy and global developmental delay. For the simplicity, the neuropathy phenotype is denoted in black, while the CNS phenotype in gray in the affected proband (II‐05). RETREG1 variant carrier status in unaffected parents as confirmed by Sanger resequencing is depicted in left half of the symbol. The DNA (reference sequence from Human Genome GRCh37/hg19 assembly) and amino acid changes are depicted as well