The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its alteration produces a phenotype that has yet to be fully defined. We present the case of a patient diagnosed with a deletion in the SHANK2 gene as an infant and its subsequent evolution, including a description and iconography of the phenotype. Similar copy number variations (CNVs) are described in the literature, but none with the length of our patient's copy number. This work broadens the phenotypic and genotypic spectrum associated with the SHANK2 gene, which promotes the genetic diagnosis of the disease.

中文翻译：

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一名由新型 SHANK2 缺失引起的发育迟缓和畸形特征患者的描述

SHANK 基因位于染色体 11q13.3-q13.4 上，编码在神经元突触中具有功能的 SHANK2 蛋白。编码错误可能会改变典型认知、语言和社交技能的发展。然而，它的改变产生了一种尚未完全定义的表型。我们介绍了一名婴儿时期被诊断患有 SHANK2 基因缺失的患者的病例及其随后的进化，包括表型的描述和图像。文献中描述了类似的拷贝数变异（CNV），但没有一个与我们患者的拷贝数长度有关。这项工作拓宽了与 SHANK2 基因相关的表型和基因型谱，促进了该疾病的基因诊断。