Traits

Traits linked to ETFA

electron transfer flavoprotein subunit alpha

The Human Phenotype Ontology links 42 traits to ETFA, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Glutaric aciduria	Always
Elevated urine suberic acid level	Often (30–79%)
Elevated urine 3-methyladipic acid level	Sometimes (5–29%)
Methylmalonic aciduria	Sometimes (5–29%)
Acidosis	Not recorded
Elevated circulating glutaric acid concentration	Not recorded
Elevated urinary 5-hydroxyhexanoic acid level	Not recorded
Ethylmalonic aciduria	Not recorded
Fatty infiltration of liver	Not recorded
Generalized aminoaciduria	Not recorded
Glucose in urine	Not recorded
Low blood sugar	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intermittent diarrhea	Often (30–79%)
Pancreatic inflammation	Sometimes (5–29%)
Enlarged liver	Not recorded
Hepatic periportal necrosis	Not recorded
Jaundice	Not recorded
Nausea	Not recorded
Vomiting	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Not recorded
Big calvaria	Not recorded
Corners of eye widely separated	Not recorded
Depressed nasal bridge	Not recorded
High forehead	Not recorded
Wider-than-typical soft spot of skull	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the reproductive system	Not recorded
Polycystic kidney dysplasia	Not recorded
Proximal tubulopathy	Not recorded
Renal cortical cysts	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Coma caused by low blood sugar	Not recorded
Fewer and broader ridges in brain	Not recorded
Gliosis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Not recorded
Enlarged and thickened heart muscle	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Not recorded
Muscle weakness	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded
Poorly developed lungs	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Electron transfer flavoprotein-ubiquinone oxidoreductase defect	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye at birth	Not recorded

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	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 ETFA and how often each is seen. Find out more at hpo.jax.org.

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