Traits

Traits linked to CLN6

CLN6 transmembrane ER protein

The Human Phenotype Ontology links 23 traits to CLN6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Mental deterioration	Always
Ataxia	Often (30–79%)
Dementia	Often (30–79%)
Grand mal seizures	Often (30–79%)
Jerking	Often (30–79%)
Seizure affecting one half of brain	Sometimes (5–29%)
Status epilepticus without prominent motor symptoms	Sometimes (5–29%)
Abnormal nervous system electrophysiology	Not recorded
Abnormality of extrapyramidal motor function	Not recorded
Degeneration of cerebrum	Not recorded
Depression	Not recorded
Epilepsy	Not recorded
Hallucinations of sound	Not recorded
Increased neuronal autofluorescent lipopigment	Not recorded
Leukoencephalopathy	Not recorded
Progressive degeneration of movement	Not recorded
Visual hallucinations	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	Not recorded
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	Not recorded
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	Not recorded

Abnormality of the eye

Trait	How often it is seen
Progressive loss of vision	Not recorded
Retina degeneration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Vascular granular osmiophilic material deposition	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CLN6 and how often each is seen. Find out more at hpo.jax.org.

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