neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Findings
No curated finding names neuronal ceroid lipofuscinosis 8 northern epilepsy variant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Definition from the Mondo Disease Ontology (MONDO:0012391), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- Very frequent (80% to 99% of cases)
- Inability to walkHPOHP:0002540
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intracellular accumulation of autofluorescent lipopigment storage materialHPOHP:0003204
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Vascular granular osmiophilic material depositionHPOHP:0003657
- Very frequent (80% to 99% of cases)
Show the remaining 27
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage materialHPOHP:0003205
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Difficulty standingHPOHP:0003698
- Frequent (30% to 79% of cases)
- EEG with abnormally slow frequenciesHPOHP:0011203
- Frequent (30% to 79% of cases)
- EEG with generalized epileptiform dischargesHPOHP:0011198
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CLN8HGNC:2079
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: neuronal ceroid lipofuscinosis 8 northern epilepsy variant
- Also called
- CLN8 disease, Northern epilepsy variantearly onset familial encephalopathy with neuroserpin inclusion bodiesEPMRNCL, Northern epilepsy variantneuronal ceroid lipofuscinosis, Northern epilepsy variantNorthern epilepsyprogressive epilepsy with intellectual disability, northern epilepsyprogressive epilepsy-intellectual disability syndrome, Finnish typeprogressive myoclonic epilepsy with neuroserpin inclusion bodies