Traits

Traits linked to SLC39A4

solute carrier family 39 member 4

The Human Phenotype Ontology links 49 traits to SLC39A4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the eyebrow	Very often (80–99%)
Abnormality of the eyelid	Very often (80–99%)
Abnormality of the tongue	Often (30–79%)
Grooved tongue	Often (30–79%)
Inflammation of eyelids	Often (30–79%)
Inflammation of the lips	Often (30–79%)
Inflammation of the tongue	Often (30–79%)
Pink eye	Often (30–79%)
Absence of scalp hair	Not recorded
Decreased taste	Not recorded

Abnormality of the integument

Trait	How often it is seen
Dry skin	Always
Abnormal blistering of the skin	Very often (80–99%)
Generalized abnormality of skin	Very often (80–99%)
Hair loss	Very often (80–99%)
Abnormality of the nail	Often (30–79%)
Grooved nails	Often (30–79%)
Open skin sore	Often (30–79%)
Paronychia	Often (30–79%)
Ridged fingernail	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Very often (80–99%)
Malabsorption	Very often (80–99%)
Diarrhea	Often (30–79%)
Anorexia	Sometimes (5–29%)
Poor appetite	Sometimes (5–29%)
Enlarged liver	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Can't control feelings	Often (30–79%)
Ataxia	Not recorded
Irritability	Not recorded
Lethargy	Not recorded
Tremor	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Perianal erythema	Always
Perioral erythema	Always
Redness of skin or mucous membrane	Very often (80–99%)
Increased spleen size	Not recorded

Abnormality of the eye

Trait	How often it is seen
Extreme sensitivity of the eyes to light	Often (30–79%)
Damage to outer layer of the cornea of the eye	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)
Weight loss	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Not recorded
Decreased serum testosterone level	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Pimple	Very often (80–99%)
Recurrent Candida infection	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased serum zinc	Often (30–79%)
Decreased serum alkaline phosphatase	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Impaired T cell function	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Decreased testicular size	Not recorded

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 SLC39A4 and how often each is seen. Find out more at hpo.jax.org.

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