MED13‐related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8‐kinase module genes‐associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with MED13 mutations. We report the case of a 13‐year‐old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in MED13 (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13‐related condition and to explore differences and similarities between KS spectrum and MED13‐related disorders.

中文翻译：

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MED13突变可以表现为歌舞b样综合征吗？

MED13相关疾病是最近在文献中描述的一种新的神经发育疾病，属于CDK8激酶模块基因相关疾病。它的特点是智力残疾和/或发育迟缓，尤其是语言方面的变化。自闭症谱系障碍（ASD），注意力缺陷多动障碍（ADHD），眼或视力问题，肌张力低下，轻度先天性壁炉异常和畸形已被描述为MED13突变个体。我们报告了一名13岁女孩的病例，该女孩先前曾接受过歌舞uki综合症（KS）的临床诊断，而经典KS基因没有突变。经过完整的外显子组测序（WES）分析后，MED13中的从头错义突变（c.C979T; p.Pro327Ser）被发现。该变体曾经在文献中被描述为是新型神经发育障碍的原因。本报告的目的是改善MED13相关疾病的临床描述，并探讨KS谱图与MED13相关疾病之间的异同。