Hypomyelinating leukodystrophy with hypodontia and hypogonadotropic hypogonadism (4H leukodystrophy), also known as POLR3-related leukodystrophy, is a genetic disorder caused by autosomal recessive mutations in the POLR3A, POLR3B, POLR1C, or POLR3K genes.^1–3 Most patients have progressive motor deficits.⁴ We present 2 siblings with a milder phenotype and lack of disease progression previously reported within a larger cohort of patients.⁵

中文翻译：

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4H白细胞营养不良：轻度的临床表型和合并症，伴有多发性硬化症。

伴低血压和促性腺激素减低性腺功能减退症（4H leukodystrophy）的hypomyelinating白细胞营养不良，是一种由POLR3A，POLR3B，POLR1C或POLR3K基因的常染色体隐性突变引起的遗传性疾病。^1-3大多数患者有进行性运动障碍。⁴我们介绍了2个同胞兄弟姐妹，它们具有较轻的表型，并且以前没有在更大的患者群中报告疾病进展。⁵