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单词 Lowe Syndrome
释义

Lowe Syndrome

英语百科

Oculocerebrorenal syndrome

(重定向自Lowe Syndrome)
Oculocerebrorenal syndrome has an X-linked recessive mode of inheritance

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, intellectual disability, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases.

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