Traits

Traits linked to SLC26A4

solute carrier family 26 member 4

The Human Phenotype Ontology links 46 traits to SLC26A4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	Always
Enlarged vestibular aqueduct	Always
Sensorineural hearing impairment	Always
Abnormality of the inner ear	Very often (80–99%)
Hypoplasia of the cochlea	Very often (80–99%)
Dizziness	Sometimes (5–29%)
Abnormal vestibular function	Not recorded
Cochlear malformation	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Enlarged thyroid gland in neck	Very often (80–99%)
Small thyroid gland	Very often (80–99%)
Thyroid agenesis	Very often (80–99%)
Underactive thyroid	Very often (80–99%)
Elevated blood parathyroid hormone level	Sometimes (5–29%)
Thyroid carcinoma	Sometimes (5–29%)
Compensated hypothyroidism	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Excessive daytime sleepiness	Very often (80–99%)
Global developmental delay	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Lethargy	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Very often (80–99%)
Constipation	Very often (80–99%)
Feeding difficulties	Very often (80–99%)
Jaundice	Very often (80–99%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the face	Very often (80–99%)
Abnormally large tongue	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Facial puffiness	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating thyroglobulin concentration	Very often (80–99%)
Elevated circulating thyroglobulin concentration	Often (30–79%)
Unconjugated hyperbilirubinemia	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle weakness	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Narrowing of windpipe	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Coldness	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Hoarse cry	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 SLC26A4 and how often each is seen. Find out more at hpo.jax.org.

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