Traits

Traits linked to SFXN4

sideroflexin 4

The Human Phenotype Ontology links 18 traits to SFXN4, 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
Delayed speech and language development	Always
Delayed fine motor development	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Tremor	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Difficulty running	Often (30–79%)
Muscle degeneration	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always
Methylmalonic aciduria	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Increased mitochondrial number	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hypersegmentation of neutrophil nuclei	Often (30–79%)
Macrocytic anemia	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 SFXN4 and how often each is seen. Find out more at hpo.jax.org.

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