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Progressive epilepsy - intellectual deficit, Finnish type
1 OMIM reference -
1 associated gene
9 connected diseases
7 signs/symptoms
Disease Type of connection
CLN8 disease
Hypomyelination with atrophy of basal ganglia and cerebellum
Null syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Primary dystonia, DYT4 type
Spastic paraplegia type 2
Synonym(s):
- CLN8 disease, Northern epilepsy variant
- NCL, Northern epilepsy variant
- Neuronal ceroid lipofuscinosis, Northern epilepsy variant
- Northern epilepsy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CLN8 Q9UBY8607837
Very frequent
- Autosomal recessive inheritance
- EEG anomalies
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Visual loss / blindness / amblyopia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychosis / schizophrenia / maniac disorder