Mutated mito-ribosomal protein S2 (MRPS2) was already described in only three subjects, two with sensorineural hearing impairment, mild developmental delay, hypoglycemia, lactic acidemia and combined oxidative phosphorylation system deficiency and another, recently, presenting with a less severe phenotype. In order to expand the phenotype, we describe a new MRPS2 homozygous subject who shows particular features which have not yet been reported: initial microcephaly, joint hypermobility and autistic features.

中文翻译：

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MRPS2 纯合子患者的新描述：有助于扩展表型的更多特征

仅在三名受试者中描述了突变的线粒体核糖体蛋白 S2 (MRPS2)，其中两名患有感音神经性听力障碍、轻度发育迟缓、低血糖、乳酸血症和联合氧化磷酸化系统缺陷，另一名最近表现出不太严重的表型。为了扩展表型，我们描述了一个新的MRPS2纯合受试者，该受试者表现出尚未报道的特定特征：初始小头畸形、关节过度活动和自闭症特征。