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We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic\/pathogenic variant in <jats:italic>ANKRD11<\/jats:italic>. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent clinical features observed in our cohort were as follows: learning and intellectual disability\u201414\/15 (93%), skeletal abnormalities\u201414\/15 (93%), postnatal short stature\u201413\/15 (87%), brachydactyly\u201411\/15 (73%), and characteristic facial appearance\u201413\/15 (87%). We identified 12 single nucleotide variants (SNVs), including six recurrent and six novel variants, and a copy number variant in the 16q24.3 region encompassing <jats:italic>ANKRD11<\/jats:italic> gene. The novel variants were as follows: p.(Gln1236Ter), p.(Asp884ThrfsTer93), p.(Arg1466GlyfsTer87), p.(Tyr2056Ter), p.(Leu955TrpfsTer22), and p.(Lys766ArgfsTer10). The identified SNVs in <jats:italic>ANKRD11<\/jats:italic> clustered around exon 9. We observed a high concordance of Face2Gene in predicting KBGS.<\/jats:p>","DOI":"10.1002\/ajmg.a.63907","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T13:09:42Z","timestamp":1728997782000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>KBG<\/scp> Syndrome in 16 Indian Individuals"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8754-2229","authenticated-orcid":false,"given":"Shruti","family":"Bajaj","sequence":"first","affiliation":[{"name":"The Purple Gene Clinic  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Amrita Institute of Medical Sciences and Research Centre  Kochi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshni","family":"Chugh","sequence":"additional","affiliation":[{"name":"The 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