Traits

Traits linked to GPX4

glutathione peroxidase 4

The Human Phenotype Ontology links 55 traits to GPX4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the ribs	Very often (80–99%)
Abnormality of the shoulder blade	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Flattened vertebrae	Very often (80–99%)
Iliac crest serration	Very often (80–99%)
Spondylometaphyseal dysplasia	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Narrow chest	Often (30–79%)
Advanced bone age	Sometimes (5–29%)
Cone-shaped end part of bone	Sometimes (5–29%)
11 pairs of ribs	Not recorded
Cupped ribs	Not recorded
Delayed maturation of end part of long bone	Not recorded
Flared iliac wing	Not recorded
Horizontal inferior border of scapula	Not recorded
Low muscle tone	Not recorded
Narrow greater sciatic notch	Not recorded
Short long bone	Not recorded
Short ribs	Not recorded
Widened greater sciatic notch	Not recorded

Abnormality of limbs

Trait	How often it is seen
Long fibula	Very often (80–99%)
Metaphyseal chondrodysplasia	Very often (80–99%)
Rhizomelic arm shortening	Very often (80–99%)
Short palm	Very often (80–99%)
Shortened long bone of hand	Very often (80–99%)
Abnormal shape of ankle bones	Not recorded
Club feet	Not recorded
Cone-shaped end part of finger bones	Not recorded
Cone-shaped end part of long bone	Not recorded
Disproportionately short upper portion of limb	Not recorded
Flat acetabular roof	Not recorded
Irregular wide portion of a long bone	Not recorded
Metaphyseal cupping	Not recorded
Short finger	Not recorded
Short finger bones	Not recorded
Short fingers or toes	Not recorded
Short toe	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Small cerebellum	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Cavity within brain	Not recorded
Focal lissencephaly	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Tall shaped head	Often (30–79%)
Depressed nasal bridge	Not recorded
Large posterior fontanelle	Not recorded
Short neck	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Very often (80–99%)
Interruption of electrical communication between upper and lower chambers of heart	Very often (80–99%)
Inflammation of heart muscle	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Cardiorespiratory arrest	Very often (80–99%)
Respiratory function loss	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Not recorded

Abnormality of the integument

Trait	How often it is seen
Loose redundant skin	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short stature	Very often (80–99%)

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 GPX4 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test