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中文Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation (CAVIPMR)
Alias:
Cavipmr
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation;
Atrophy, Cerebellar, Visual Impairment, Psychomotor Retardation
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小脑萎缩、视觉障碍和精神运动迟缓，又称cavipmr，与cakut有关。与小脑萎缩、视觉障碍和精神运动迟缓有关的重要基因是EMC1（ER膜蛋白复合物亚基1）。相关组织包括眼睛和小脑，相关表型为全球发育延迟和语言发育延迟。
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