FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neuronal ceroid lipofuscinosis 8 northern epilepsy variant ID (Ontology) DOID:0110724 (Human Disease)
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.
Also Known As "EPMR" ; "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" ; "progressive epilepsy with mental retardation, northern epilepsy" (for all, see Synonyms field below)
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 Genes
 neuronal ceroid lipofuscinosis 8 northern epilepsy variant       1
 for disease ribbon | neuronal ceroid lipofuscinosis 8 northern epilepsy variant       1
 model of | neuronal ceroid lipofuscinosis 8 northern epilepsy variant       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
lipid storage disease               |
 |__neuronal ceroid lipofuscinosis__|
                                    neuronal ceroid lipofuscinosis 8 northern epilepsy variant  1 rec.
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Is a autosomal recessive disease
neuronal ceroid lipofuscinosis
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Synonyms
  • "EPMR" EXACT OMO:0003012
    "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT
    "progressive epilepsy with mental retardation, northern epilepsy" EXACT
    "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT
Secondary IDs
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GARD:2163
GARD:4010
ICD10CM:E75.4
MIM:610003
ORDO:1947