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Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Mental deterioration; and common findings: Bilateral tonic-clonic seizure, Ataxia, Progressive loss of mental abilities (dementia), and Sudden, brief involuntary muscle jerks (myoclonus). 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 13 | Bilateral tonic-clonic seizure, Brain shrinkage (cerebral atrophy), Visual hallucination |
Muscles | 1 | Brain shrinkage (cerebral atrophy) |
Arms and legs | 1 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
CLN6 encodes CLN6 transmembrane ER protein (311 aa). Highest expression in Cells EBV-transformed lymphocytes (51.6 TPM) and Cells Cultured fibroblasts (31.6 TPM).
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) is associated with mutations in the CLN6 gene on chromosome 15.
CLN6 is classified as a druggable target with score 0.0.
Genetic testing for CLN6 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 4 common features.
No clinical trials have been registered for ceroid lipofuscinosis, neuronal, 6B (Kufs type).
3 publications have been identified in PubMed for ceroid lipofuscinosis, neuronal, 6B (Kufs type). Research spans Basic Science / Preclinical (100%).
Markaki SP (2025). [PMID: 41511290](https://pubmed.ncbi.nlm.nih.gov/41511290/). *Cells*. [Basic Science / Preclinical]
Chaoul V (2025). [PMID: 40358187](https://pubmed.ncbi.nlm.nih.gov/40358187/). *Cells*. [Basic Science / Preclinical]
Venier AC (2025). [PMID: 40327886](https://pubmed.ncbi.nlm.nih.gov/40327886/). *Human molecular genetics*. [Basic Science / Preclinical]