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Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
rareProgressive 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.
- Identifiers
- MONDO:0012391 OMIM:610003Orphanet:1947Orphanet:530298
- Part of
- Monogenic epilepsyNeuronal ceroid lipofuscinosis 8Progressive myoclonus epilepsySyndromic dyslipidemia
- Also known as
- ceroid lipofuscinosis neuronal 8 · CLN8 · CLN8 disease, EPMR (subtype) · CLN8 disease, late infantile (subtype) · CLN8 disease, Northern epilepsy variant
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