Traits

Traits linked to FOXE1

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The Human Phenotype Ontology links 59 traits to FOXE1, 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
Bilateral blockage of the rear opening of the nasal cavity	Always
Cleft palate	Always
Abnormality of blood vessel of neck	Very often (80–99%)
Abnormality of the face	Very often (80–99%)
Abnormally large tongue	Very often (80–99%)
Blockage of the rear opening of the nasal cavity	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Receding chin	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Facial puffiness	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating T4 concentration	Always
Elevated circulating thyroid-stimulating hormone concentration	Always
Underactive thyroid	Always
Underactive thyroid gland from birth	Always
Follicular thyroid carcinoma	Very often (80–99%)
Nodular goiter	Very often (80–99%)
Thyroid agenesis	Very often (80–99%)
Enlarged thyroid gland in neck	Often (30–79%)
Papillary thyroid carcinoma	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Abdominal bloating	Very often (80–99%)
Constipation	Very often (80–99%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Umbilical hernia	Often (30–79%)
Colon cancer	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Excessive daytime sleepiness	Always
Intellectual disability	Very often (80–99%)
Global developmental delay	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Lethargy	Often (30–79%)
Pressure on spinal cord	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Low muscle tone	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Bone pain	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Ovarian cancer	Sometimes (5–29%)
Papillary renal cell carcinoma	Sometimes (5–29%)
Prostate cancer	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Coldness	Often (30–79%)
Pain	Sometimes (5–29%)

Laboratory abnormality

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal lymph node histology	Often (30–79%)
Chronic noninfectious lymphadenopathy	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal hair quantity	Very often (80–99%)
Basal cell carcinoma	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Bifid epiglottis	Sometimes (5–29%)
Chronic lung disease	Sometimes (5–29%)

Growth abnormality

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

Abnormal tissue mass

Trait	How often it is seen
Head and neck tumor	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

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 FOXE1 and how often each is seen. Find out more at hpo.jax.org.

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