英语词汇“hyperphosphatasia with mental retardation 1”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	hyperphosphatasia with mental retardation 1
释义	hyperphosphatasia with mental retardation 1 hyperphosphatasia with mental retardation 1 An autosomal recessive condition OMIM:239300 characterised by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. Molecular pathology Defects in PIGV, which encodes a mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis, cause hyperphosphatasia with mental retardation type 1.
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