Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1 (CAMRQ1)

小脑性共济失调-智力发育异常-平衡失调综合征1型(来自ICD-11)

别称:

Dysequilibrium Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Cerebellar Hypoplasia, Vldlr-Associated

Uner Tan Syndrome

Camrq Syndrome

Camrq1

Des

Uts

Cerebellar Hypoplasia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion

Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1

Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1

Ataxia, Cerebellar, Mental Retardation, Quadrupedal Locomotion, Type 1

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome

Non-Progressive Cerebellar Ataxia with Intellectual Disability

Autosomal Recessive Cerebellar Ataxia with Mental Retardation

Cerebellar Disorder, Nonprogressive, with Mental Retardation

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Hypoplasia Vldlr-Associated

Dysequilibrium Syndrome-Vldlr

Des-Vldlr

Vldlr-Ch

Vldlrch

Chmrq1

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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

小脑性共济失调、智力障碍和平衡失调综合征1，也称为平衡失调综合征，与小脑性共济失调、智力障碍和平衡失调综合征以及小脑发育不全有关，其症状包括小脑性共济失调、动作震颤和不自主运动。与小脑性共济失调、智力障碍和平衡失调综合征1有关的重要基因是VLDLR（极低密度脂蛋白受体）。相关组织包括小脑和大脑，相关表型为智力障碍和高反射。

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