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ORPHA:314629Disease
Also called NCL11 · Neuronal ceroid lipofuscinosis type 11
What it is
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, 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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