Basel‐Vanagaite‐Smirin‐Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. More recently, an article describing a set of affected siblings was published. We describe three, previously unreported, patients showing clinical variability for this newly defined syndrome. The major features determined by “reverse phenotyping” include significant to profound developmental delays/intellectual disability with absent or delayed speech, epilepsy, ocular abnormalities, cleft lip and/or palate, congenital heart disease, urogenital anomalies, skeletal abnormalities, brain malformations and/or microcephaly, failure to thrive, and dysmorphic features. The authors suggest the delineation of an acronym using the gene name and common features seen across the majority of patients reported so far. This new nomination, MED‐DOCS, may help clinicians to recognize, suspect, and remember this novel syndrome.

中文翻译：

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巴塞尔-钒钙镁-史密林-约瑟夫综合征的进一步描述：3例患者的报告。

巴塞尔-瓦纳加特-史密林-约瑟夫综合症是一种最近描述的由MED25变异引起的常染色体隐性智力障碍综合症基因。虽然最初在巴西被发现，但现在在以色列已被该病的同名作者进一步描述。2018年的出版物进一步促进了其描述，但患者的表型由于双重诊断而变得复杂。最近，发表了一篇描述一组受影响的兄弟姐妹的文章。我们描述了三名以前未报告过的患者，该患者对该新定义的综合征表现出临床变异性。“反向表型”确定的主要特征包括严重到严重的发育迟缓/智力障碍，缺乏或延迟的言语，癫痫，眼部异常，唇裂和/或pa裂，先天性心脏病，泌尿生殖系统异常，骨骼异常，脑畸形和/或小头畸形，failure壮成长和畸形。作者建议使用迄今报道的大多数患者所见的基因名称和常见特征来描述首字母缩写词。这项新的称谓MED‐DOCS可以帮助临床医生识别，怀疑和记住这种新的综合症。