英语词汇“pontocerebellar hypoplasia type 1a”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 1a
释义	pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1A A condition (OMIM:607596) characterised by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction of neonatal onset, gliosis, and anterior horn cell degeneration that resembles infantile spinal muscular atrophy. Molecular pathology Defects of VRK, which encodes a serine/threonine protein kinase, cause pontocerebellar hypoplasia type 1A.
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pontocerebellar hypoplasia type 1A