A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. In this patient, distinctive facial features gradually became apparent with age, and severe vomiting caused by gastroesophageal reflux continued even after percutaneous endoscopic gastrostomy.

中文翻译：

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一名患有严重神经发育迟缓和频繁呕吐的日本患者的复发性从头 ZSWIM6 变异

在一名患有严重神经发育迟缓、癫痫、面部特征独特、小头畸形、生长不足、行为异常和频繁呕吐的日本男性患者中发现了一个复发性ZSWIM6变体，NM_020928.2:c.2737C>T [p.Arg913*]但没有额鼻或肢体畸形。在该患者中，随着年龄的增长，独特的面部特征逐渐变得明显，即使在经皮内窥镜胃造口术后，胃食管反流引起的严重呕吐仍在继续。