Traits

Traits linked to DUOXA2

dual oxidase maturation factor 2

The Human Phenotype Ontology links 32 traits to DUOXA2, 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
Decreased circulating T4 concentration	Very often (80–99%)
Elevated circulating thyroid-stimulating hormone concentration	Very often (80–99%)
Enlarged thyroid gland in neck	Often (30–79%)
Thyroid defect in oxidation and organification of iodide	Often (30–79%)
Underactive thyroid gland from birth	Often (30–79%)
Increased radioactive iodine uptake	Sometimes (5–29%)
Positive perchlorate discharge test	Sometimes (5–29%)
Reduced radioactive iodine uptake	Sometimes (5–29%)
Underactive thyroid	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Delayed cranial suture closure	Often (30–79%)
Large posterior fontanelle	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Facial puffiness	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Neurodevelopmental delay	Often (30–79%)
Decreased reflex response	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating thyroglobulin concentration	Sometimes (5–29%)
Hypothermia	Sometimes (5–29%)
Neonatal hyperbilirubinemia	Sometimes (5–29%)
Laboratory abnormality	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of end part of bone	Often (30–79%)
Low muscle tone	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Delayed proximal femoral epiphyseal ossification	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Slow heartbeats	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Growth delay	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 DUOXA2 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