Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 4 (CAMRQ4)

小脑性共济失调-智力发育异常-平衡失调综合征4型(来自ICD-11)

别称:

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

Camrq4

Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 4

Ataxia, Cerebellar, Mental Retardation, and Dysequilibrium Syndrome, Type 4

Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 4

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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 4，也被称为Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4，其症状包括共济失调、躯干不稳等。与Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 4有关的重要基因是ATP8A2（ATPase Phospholipid Transporting 8A2）。

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