Traits

Traits linked to PET117

PET117 cytochrome c oxidase chaperone

The Human Phenotype Ontology links 14 traits to PET117, 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
Babinski sign	Always
Decreased muscle movement	Always
Loss of developmental milestones	Always
Motor delay	Always
Slow movements	Always

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased CSF alanine concentration	Always
Increased CSF lactate	Always
Elevated blood glycine levels	Often (30–79%)
High urine lactic acid levels	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex IV	Always
Increased mitochondrial number	Always

Abnormality of the digestive system

Trait	How often it is seen
Protein-losing enteropathy	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

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 PET117 and how often each is seen. Find out more at hpo.jax.org.

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