Traits

Traits linked to SOX3

SRY-box transcription factor 3

The Human Phenotype Ontology links 69 traits to SOX3, 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
Hypopituitarism	Always
Decreased circulating insulin-like growth factor 1 concentration	Very often (80–99%)
Decreased function of male gonad	Very often (80–99%)
Decreased response to growth hormone stimulation test	Very often (80–99%)
Abnormal prolactin level	Often (30–79%)
Abnormality of the hypothalamus-pituitary axis	Often (30–79%)
Decreased circulating ACTH concentration	Often (30–79%)
Hypogonadotropic hypogonadism	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Underdeveloped pituitary gland	Often (30–79%)
Absence of secondary sex characteristics	Sometimes (5–29%)
Delayed puberty	Sometimes (5–29%)
Diabetes insipidus	Sometimes (5–29%)
Ectopic posterior pituitary	Sometimes (5–29%)
Ectopic anterior pituitary gland	Rarely (1–4%)
Panhypopituitarism	Not recorded
Underactive thyroid	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Very often (80–99%)
Absent septum pellucidum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Epilepsy	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Abnormal myelination	Sometimes (5–29%)
Absent/small cerebellum	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Extreme thirst	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Intellectual disability, mild	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic nerve hypoplasia	Very often (80–99%)
Septo-optic dysplasia	Very often (80–99%)
Visual impairment	Very often (80–99%)
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Abnormal saccadic eye movements	Sometimes (5–29%)
Gaze-evoked horizontal nystagmus	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Ambiguous external genitalia	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Polycystic ovaries	Very often (80–99%)
Abnormal absence of menstruation	Often (30–79%)
Infertility	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Often (30–79%)
Flat nose	Often (30–79%)
Lost smell	Sometimes (5–29%)
Small posterior fossa	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Growth delay	Often (30–79%)
Obesity	Sometimes (5–29%)
Pituitary dwarfism	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Constipation	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of secondary sexual hair	Often (30–79%)
Decreased ability to sweat	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Osteoporosis of vertebrae	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Low blood pressure	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Absent/small breasts	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Constitutional symptom

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

Laboratory abnormality

Trait	How often it is seen
Low blood sugar	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 SOX3 and how often each is seen. Find out more at hpo.jax.org.

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