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Start free with EleplanCLN7 disease
ORPHA:228366Disease
Also called NCL7 · Neuronal ceroid lipofuscinosis type 7
What it is
A rare neuronal ceroid lipofuscinosis characterized by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy
- Classified as
- Disease
Recorded for the broader condition
- Inheritance
- Autosomal dominant, Autosomal recessiveNeuronal ceroid lipofuscinosis
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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