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neuronal ceroid lipofuscinosis 9 (CLN9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronal ceroid lipofuscinosis 9

MONDO:0012188

Also known as:CLN9neuronal ceroid lipofuscinosis type 9CLN 9

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Scanning speech, Mutism, Brain shrinkage (cerebral atrophy), and Seizure and 13 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Scanning speech, Mutism, Brain shrinkage (cerebral atrophy)
Muscles

Diagnosis

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 9 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuronal ceroid lipofuscinosis 9.

36 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 9. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (25%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Laboratory research	12	33%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609055

Orphanet

European rare disease database

Orphanet:228357

GARD

Genetic and Rare Diseases Info Center

GARD:6618

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neuronal ceroid lipofuscinosis 9

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neuronal ceroid lipofuscinosis 9

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications