Leukoencephalopathy with Ataxia (LKPAT)

Alias:
Lkpat
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukoencephalopathy with Ataxia, also known as lkpat, is related to clcn2-related leukoencephalopathy and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including headache and gait ataxia. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include pons and brain, and related phenotypes are limb ataxia and visual field defect
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
10
7

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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