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

Alias:

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。

Related ID：

MALACARDS：CRB231

OMIM：610185

MESH：D002524