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The most common clinical manifestations of BPP include intellectual disability and epilepsy. Cytoplasmic FMRP\u2010interacting protein 2 (CYFIP2) is a protein that interacts with the fragile X mental retardation protein (FMRP). <jats:italic>CYFIP2<\/jats:italic> variants can cause various brain structural abnormalities with the most common clinical manifestations of intellectual disability, epileptic encephalopathy and dysmorphic features. We present a girl with multiple disabilities and BPP caused by a heterozygous, novel, likely pathogenic variant (c.1651G&gt;C: p.(Val551Leu) in the <jats:italic>CYFIP2<\/jats:italic> gene. Our case report broadens the spectrum of genetic diversity associated with BPP by incorporating <jats:italic>CYFIP2<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.63478","type":"journal-article","created":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T09:15:08Z","timestamp":1700212508000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel variant in <i>CYFIP2<\/i> in a girl with severe disabilities and bilateral perisylvian polymicrogyria"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9514-9243","authenticated-orcid":false,"given":"Tommi","family":"Salokivi","sequence":"first","affiliation":[{"name":"Department of Disability Services The Wellbeing Services County of Southwest Finland  Paimio Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riitta","family":"Parkkola","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Turku and Turku University Hospital  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmin","family":"Rajendran","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Gertrude H. 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