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The phenotype of affected individuals includes microcephaly, seizures, intellectual disability, developmental delay, absent or limited speech, restricted movement, cortical blindness, and skeletal defects (hip dysplasia, club feet, scoliosis). The currently known DEE73 phenotype is based on two reports of four unrelated individuals: three with missense variants in a di\u2010leucine motif that is essential for binding to the Adaptor Protein Complex 3 (AP\u20103), and one with a truncating variant located in the last exon. This case series of an additional 13 affected individuals with\n                    <jats:italic>RNF13<\/jats:italic>\n                    variants (2 missense, 11 truncating) supports and broadens previous reports. Importantly, it helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70241","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T06:03:23Z","timestamp":1784181803000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Heterozygous\n                    <scp>RNF13<\/scp>\n                    Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy"],"prefix":"10.1002","author":[{"given":"Donald R.","family":"Latner","sequence":"first","affiliation":[{"name":"HudsonAlpha Institute for Biotechnology  Huntsville Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Hiatt","sequence":"additional","affiliation":[{"name":"HudsonAlpha Institute for Biotechnology  Huntsville Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candice R.","family":"Finnila","sequence":"additional","affiliation":[{"name":"HudsonAlpha Institute for Biotechnology  Huntsville Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitley V.","family":"Kelley","sequence":"additional","affiliation":[{"name":"HudsonAlpha Institute for Biotechnology  Huntsville Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marla","family":"Johnston","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Louisiana State University Health Sciences Center and Children's Hospital New Orleans  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Patrick\u2010Esteve","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Louisiana State University Health Sciences Center and Children's Hospital New Orleans  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3076-3178","authenticated-orcid":false,"given":"Nour","family":"Elkhateeb","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona A.","family":"Kamel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology and Metabolic Medicine Unit Kasr Al\u2010Ainy School of Medicine  Cairo Egypt"},{"name":"Department of Pediatrics, Pediatric Neurology King Salman Medical City  El Madinah Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahsin Stefan","family":"Barakat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon","family":"van Slegtenhorst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin A.","family":"Mensah","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics, BIH Biomedical Innovation Academy, RG Development and Disease Max Planck Institute for Molecular Genetics  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lewis","family":"Pang","sequence":"additional","affiliation":[{"name":"Royal Devon University Healthcare NHS Foundation Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Bowman","sequence":"additional","affiliation":[{"name":"Royal Devon University Healthcare NHS Foundation Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrietta","family":"Lefroy","sequence":"additional","affiliation":[{"name":"Royal Devon University Healthcare NHS Foundation Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Cleaver","sequence":"additional","affiliation":[{"name":"Royal Devon University Healthcare NHS Foundation Trust  Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Palmquist","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0813-1334","authenticated-orcid":false,"given":"Amanda G. 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