Ceroid Lipofuscinosis, Neuronal, 2 (CLN2)

神经元蜡样脂褐质沉积症2型(来自ICD-11)

别称:

Jansky-Bielschowsky Disease

Neuronal Ceroid Lipofuscinosis 2

Cln2 Disease

Lincl

Cln2

Classic Late Infantile Neuronal Ceroid Lipofuscinosis

Late-Infantile Neuronal Ceroid Lipofuscinosis

Classic Late Infantile Ncl

Neuronal Ceroid Lipofuscinosis 2 with Variable Age at Onset

Ceroid Lipofuscinosis, Neuronal, 2, Variable Age at Onset

Neuronal Ceroid Lipofuscinosis 2 Variable Age at Onset

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Late-Infantile Neuronal Ceroid Lipfuscinosis

Lipofuscinosis, Ceroid, Neuronal, Type 2

Late-Infantile Batten Disease

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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

Ceroid Lipofuscinosis, Neuronal, 2，也被称为Jansky-Bielschowsky病，与Ceroid Lipofuscinosis, Neuronal, 6a和Aspartylglucosaminuria有关，症状包括共济失调、肌阵挛和癫痫发作。与Ceroid Lipofuscinosis, Neuronal, 2相关的基因是TPP1（三肽基肽酶1）。相关组织包括眼睛和大脑，相关表型为癫痫发作和共济失调。

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