Traits

Traits linked to TG

thyroglobulin

The Human Phenotype Ontology links 46 traits to TG, 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 free T4 concentration	Always
Decreased circulating T4 concentration	Always
Elevated circulating thyroid-stimulating hormone concentration	Always
Enlarged thyroid gland in neck	Always
Increased circulating free T3	Always
Large thyroid	Always
Multinodular goiter	Always
Underactive thyroid	Always
Thyroid defect in oxidation and organification of iodide	Often (30–79%)
Underactive thyroid gland from birth	Often (30–79%)
Follicular thyroid carcinoma	Sometimes (5–29%)
Increased radioactive iodine uptake	Sometimes (5–29%)
Positive perchlorate discharge test	Sometimes (5–29%)
Reduced radioactive iodine uptake	Sometimes (5–29%)
Compensated hypothyroidism	Not recorded
Increased T3/T4 ratio	Not recorded
Thyroid carcinoma	Not recorded
Thyroid gland inflammation	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed motor skills	Always
Neurodevelopmental delay	Often (30–79%)
Decreased reflex response	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Large posterior fontanelle	Always
Delayed cranial suture closure	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
Prolonged yellowing of skin in newborn	Always
Constipation	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Umbilical hernia	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating thyroglobulin concentration	Always
Abnormal circulating thyroglobulin concentration	Sometimes (5–29%)
Hypothermia	Sometimes (5–29%)
Neonatal hyperbilirubinemia	Sometimes (5–29%)

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%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Always

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%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	Always

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Always

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

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