Disease

neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Definition

A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.

Synonyms

EPMR
northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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