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We report a 42\u2010year\u2010old female presenting with a de novo single\u2010amino acid in\u2010frame deletion in the\n                    <jats:italic>KIF11<\/jats:italic>\n                    gene (c.1294_1296del; p.Glu432del), who exhibited severe intellectual disability, microcephaly, hypotonia, seizures, and self\u2010injurious behavior. There was evidence of developmental delays, ophthalmologic findings, and impairments in speech and adaptive functioning in her clinical history. Trio whole exome sequencing identified a diagnostic pathogenic variant in\n                    <jats:italic>KIF11<\/jats:italic>\n                    and a maternally inherited\n                    <jats:italic>SCN3A<\/jats:italic>\n                    variant of uncertain significance. The presentation of the case offers an unusual longitudinal perspective of over four decades, illustrating the variable expressivity and long\u2010term outcome of\n                    <jats:italic>KIF11<\/jats:italic>\n                    disorders. This report calls for the consideration of\n                    <jats:italic>KIF11<\/jats:italic>\n                    variants in the differential diagnosis of syndromic developmental delay and microcephaly in adults and underlines the diagnostic as well as the prognostic importance of detailed genetic and phenotypic analysis, particularly in cases with de novo variants.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70270","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T07:28:31Z","timestamp":1785914911000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An Adult Presentation of\n                    <scp>\n                      <i>KIF11<\/i>\n                    <\/scp>\n                    \u2010Related\n                    <scp>MCLID<\/scp>\n                    Syndrome: Case Report and 40\u2010Year Follow\u2010Up"],"prefix":"10.1002","author":[{"given":"Thrishna","family":"Chathurvedula","sequence":"first","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juvy","family":"Rabelas","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kareem","family":"Touleimat","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruhi","family":"Shah","sequence":"additional","affiliation":[{"name":"George A. 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Jervis Clinic NYS Institute for Basic Research in Developmental Disabilities  Staten Island New York USA"},{"name":"The Graduate Center, the City University of New York  New York 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