A–E: Photos of Subjects 3, 5, 6 (at 6 years of age), 7 (postmortem), and 8, respectively. As previously reported, a consistent pattern of dysmorphic features is not seen among individuals with NEDBEH (). F: The locations of the RERE deletions and sequence variants reported in individuals with NEDBEH are shown in relation to the protein domains of RERE. Deletions and sequence variants found in Subjects 1–9 are shown in red if only a single variant was detected and in blue if two variants were detected. Previously published sequence variants are shown in black. A high percentage of RERE pathogenic variants affect a 21 amino acid (amino acids 1425–1445), histidine-rich region of the Atrophin-1 domain. Nucleotide (cDNA) numbering uses +1 as the A of the ATG translation initiation codon in the reference sequence, with the initiation codon as codon 1