Traits

Traits linked to PNPLA8

patatin like domain 8, phospholipase A2

The Human Phenotype Ontology links 17 traits to PNPLA8, 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
Difficulty articulating speech	Always
Dystonia	Always
Epilepsy	Always
Focal impaired awareness seizure	Always
Lack of coordination of movement	Always
Toe walking	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Gowers sign	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Proximal neurogenic muscle weakness	Always
Mitochondrial myopathy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased CSF 5-methyltetrahydrofolate concentration	Always
Elevated serum anion gap	Always
Higher than normal levels of lactate in blood	Always
Increased circulating pyruvate concentration	Always
Increased lactate in body	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Always

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 PNPLA8 and how often each is seen. Find out more at hpo.jax.org.

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