Ceroid Lipofuscinosis, Neuronal, 2 (CLN2)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ceroid Lipofuscinosis, Neuronal, 2, also known as jansky-bielschowsky disease, is related to ceroid lipofuscinosis, neuronal, 6a and aspartylglucosaminuria, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 2 is TPP1 (Tripeptidyl Peptidase 1). Affiliated tissues include eye and brain, and related phenotypes are seizure and ataxia

Related ID：

MALACARDS：CRD183

OMIM：204500

MESH：D009472