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-intellectual disability syndrome, Finnish type ...