英语词汇“pontocerebellar hypoplasia type 2b”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	pontocerebellar hypoplasia type 2b
释义	pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2B An autosomal recessive pontocerebellar malformation (OMIM:612389) characterised by an abnormally small cerebellum and brainstem, progressive microcephaly, poor sucking or swallowing, extrapyramidal dyskinesia and chorea, epilepsy, and a normal spinal cord. Molecular pathology Caused by defects of TSEN2, which encodes a subunit of the tRNA-splicing endonuclease complex.
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pontocerebellar hypoplasia type 2B