Traits

Traits linked to SLC39A8

solute carrier family 39 member 8

The Human Phenotype Ontology links 49 traits to SLC39A8, 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
Cerebellar vermis atrophy	Always
Degeneration of cerebellum	Always
Delayed ability to sit	Always
Intellectual disability	Always
IQ less than 20	Very often (80–99%)
Profound global developmental delay	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Elevated brain lactate level by MRS	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to walk	Often (30–79%)
Degeneration of cerebrum	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)
Visual fixation instability	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Poor head control	Always
Severely decreased muscle tone	Very often (80–99%)
Osteopenia	Often (30–79%)
Double-Jointed	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Elbow flexion contracture	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Limb undergrowth	Sometimes (5–29%)
Webbed skin of toes	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating zinc concentration	Very often (80–99%)
Hypomanganesemia	Very often (80–99%)
Type II transferrin isoform profile	Very often (80–99%)
Increased CSF lactate	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex II	Sometimes (5–29%)
Decreased activity of mitochondrial complex IV	Sometimes (5–29%)
Decreased activity of the pyruvate dehydrogenase complex	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Often (30–79%)
Short stature	Often (30–79%)
Disproportionate short-limb short stature	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Deformity of the skull	Sometimes (5–29%)
Flat face	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the liver	Sometimes (5–29%)
Decreased mitochondrial complex III activity in liver tissue	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the immune system

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

Abnormality of the respiratory system

Trait	How often it is seen
Sudden episodic apnea	Sometimes (5–29%)

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 SLC39A8 and how often each is seen. Find out more at hpo.jax.org.

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