Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 2 (CAMRQ2)

小脑性共济失调-智力发育异常-平衡失调综合征2型(来自ICD-11)

别称:

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2

Camrq2

Cerebellar Ataxia, Impaired Intellectual Development, and Dysquilibrium Syndrome 2

Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 2

Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 2

Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 2

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 2，也被称为Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2，其症状包括小脑性共济失调、震颤和不自主运动。与Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 2相关的基因是WDR81（WD重复域81）。相关组织包括大脑和小脑。

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