PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.5: c.68T > C, p.V23A). The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.

中文翻译：

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一种导致 IMNEPD 的新型 PTRH2 错义突变：病例报告

PTRH2缺乏症与一种极为罕见的疾病、婴儿型多系统神经、内分泌和胰腺疾病 (IMNEPD) 相关。我们报告了第一位患有 IMNEPD 的伊朗患者。我们在PTRH2基因中检测到了一个致病性变异（NM_016077.5：c.68T > C，p.V23A）。先证者有近视、痉挛性双瘫型脑瘫、尿石症和癫痫病史。