neuronal ceroid lipofuscinosis 9
Findings
No curated finding names neuronal ceroid lipofuscinosis 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Definition from the Mondo Disease Ontology (MONDO:0012188), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: neuronal ceroid lipofuscinosis 9
- Also called
- CLN9neuronal ceroid lipofuscinosis type 9