DISEASES

Disease-gene associations mined from literature

Human genes for neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DOID:0110724]

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:  neuronal ceroid lipofuscinosis 8 northern epilepsy variant,  DOID:0110724,  EPMR,  northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant,  progressive epilepsy with mental retardation, northern epilepsy ...