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ceroid lipofuscinosis, neuronal, 6B (Kufs type) | RareConnect | RareConnect.io

/adult neuronal ceroid lipofuscinosis

/ceroid lipofuscinosis, neuronal, 6B (Kufs type)

ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Rare Disease

MONDO:0008768

Also Known As

CLN4ACLN6 neuronal ceroid lipofuscinosisautosomal recessive neuronal ceroid lipofuscinosis 4Aneuronal ceroid lipofuscinosis 4Aneuronal ceroid lipofuscinosis caused by mutation in CLN6neuronal ceroid lipofuscinosis type 4ACLN4A diseaseKuf's disease type AKuf's disease, autosomal recessiveadult neuronal ceroid lipofuscinosis 4Aceroid lipofuscinosis, neuronal, 4A, autosomal recessive

Definition

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:204300 ↗

Orphanet

Orphanet:228340 ↗

GARD

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