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In this report, we present a family with three affected individuals found to have a heterozygous missense c.800C &gt; T (predicted p.Thr267Met) who present clinically with a SCA29-like syndrome. All three individuals presented with varying degrees of ataxia, developmental delay, and apparent intellectual disability, as well as craniofacial involvement\u2014an uncommon finding in patients with SCA29. The variant was identified using clinical exome sequencing and validated with Sanger sequencing. It is presumed to be inherited via parental germline mosaicism. We present our findings to provide additional evidence for germline mosaic inheritance of SCA29, as well as to expand the clinical phenotype of the syndrome.<\/jats:p>","DOI":"10.1101\/mcs.a006303","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:35:14Z","timestamp":1697060114000},"page":"a006303","source":"Crossref","is-referenced-by-count":1,"title":["<i>ITPR1<\/i>-associated spinocerebellar ataxia with craniofacial features\u2014additional evidence for germline 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