Ceroid Lipofuscinosis, Neuronal, 6b (CLN6B)

Alias:

Neuronal Ceroid Lipofuscinosis 6b

Cln4a

Lipofuscinosis, Ceroid, Neuronal, Autosomal Recessive,type 4a, Kufs Type

Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive

Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a

Adult Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis 4a

Kufs Disease, Autosomal Recessive

Kufs Disease Autosomal Recessive

Cln6 Disease Kufs Type a

Cln4a Disease

Kufs Disease

Cln6b

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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, 6b，又称神经元性Ceroid Lipofuscinosis 6b，与成人神经元性Ceroid Lipofuscinosis和Ceroid Lipofuscinosis, Neuronal, 1有关。与Ceroid Lipofuscinosis, Neuronal, 6b相关的基因是CLN6（CLN6跨膜ER蛋白）。相关组织包括眼睛和大脑，相关表型为精神衰退和痴呆症。

Related ID：

MALACARDS：CRD258

OMIM：204300

MESH：D009472