Traits

Traits linked to PAX8

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The Human Phenotype Ontology links 47 traits to PAX8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal thyroid location	Always
Elevated circulating thyroid-stimulating hormone concentration	Always
Underactive thyroid	Always
Abnormality of the thyroid gland	Very often (80–99%)
Decreased circulating T4 concentration	Very often (80–99%)
Lingual thyroid	Very often (80–99%)
Small thyroid gland	Very often (80–99%)
Thyroid agenesis	Very often (80–99%)
Enlarged thyroid gland in neck	Not recorded
Underactive thyroid gland from birth	Not recorded

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%)
Umbilical hernia	Very often (80–99%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Poor swallowing	Sometimes (5–29%)
Feeding difficulties in infancy	Not recorded

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%)
Large posterior fontanelle	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating thyroglobulin concentration	Very often (80–99%)
Cold intolerance	Often (30–79%)
Elevated circulating thyroglobulin concentration	Often (30–79%)
Unconjugated hyperbilirubinemia	Often (30–79%)
High blood bilirubin levels	Not recorded
Hypothermia	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%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Delayed bone maturation	Not recorded

Abnormality of the voice

Trait	How often it is seen
Hoarse cry	Often (30–79%)
Hoarse voice	Often (30–79%)
Inability to produce voice sounds	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 cardiovascular system

Trait	How often it is seen
Slow heartbeats	Not recorded

Abnormality of the integument

Trait	How often it is seen
Dry skin	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Noisy breathing	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 PAX8 and how often each is seen. Find out more at hpo.jax.org.

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