英语词汇“pontocerebellar hypoplasia type 2c”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 2c
释义	pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2C An autosomal recessive pontocerebellar malformation (OMIM:612390) 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 TSEN34, which encodes a subunit of the tRNA splicing endonuclease complex.
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pontocerebellar hypoplasia type 2C