Ceroid Lipofuscinosis, Neuronal, 6a (CLN6A)

Alias:

Cln6 Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, 6

Neuronal Ceroid Lipofuscinosis 6a

Neuronal Ceroid Lipofuscinosis 6

Vlincl

Cln6

Neuronal Ceroid Lipofuscinosis 6 with Variable Age at Onset

Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant

Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant

Neuronal Ceroid Lipofuscinosis 6 Variable Age of Onset

Late Infantile Neuronal Ceroid Lipofuscinosis

Cln6-Related Neuronal Ceroid Lipofuscinosis

Lipofuscinosis, Ceroid, Neuronal, Type 6

Ceroid Lipofuscinosis, Neuronal, 5

Ceroid Lipofuscinosis Neuronal 6

Jansky-Bielschowsky Disease

Late Infantile Ncl

Cln6a

Lincl

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ceroid Lipofuscinosis, Neuronal, 6a, also known as cln6 disease, is related to ceroid lipofuscinosis, neuronal, 2 and progressive myoclonus epilepsy, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 6a is CLN6 (CLN6 Transmembrane ER Protein). Affiliated tissues include eye and brain, and related phenotypes are seizure and vascular granular osmiophilic material deposition

Related ID：

MALACARDS：CRD259

OMIM：601780

MESH：D009472