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	나타나는 빈도
Hypopituitarism	항상
Decreased circulating insulin-like growth factor 1 concentration	매우 자주 (80–99%)
Decreased function of male gonad	매우 자주 (80–99%)
Decreased response to growth hormone stimulation test	매우 자주 (80–99%)
Abnormal prolactin level	자주 (30–79%)
Abnormality of the hypothalamus-pituitary axis	자주 (30–79%)
Decreased circulating ACTH concentration	자주 (30–79%)
Hypogonadotropic hypogonadism	자주 (30–79%)
Low thyroid gland function due to abnormal pituitary gland	자주 (30–79%)
Underdeveloped pituitary gland	자주 (30–79%)
Absence of secondary sex characteristics	가끔 (5–29%)
Delayed puberty	가끔 (5–29%)
Diabetes insipidus	가끔 (5–29%)
Ectopic posterior pituitary	가끔 (5–29%)
Ectopic anterior pituitary gland	드물게 (1–4%)
Panhypopituitarism	기록되지 않음
Underactive thyroid	기록되지 않음

Trait	나타나는 빈도
Intellectual disability	매우 자주 (80–99%)
Absent septum pellucidum	자주 (30–79%)
Agenesis of corpus callosum	자주 (30–79%)
Epilepsy	자주 (30–79%)
Paralysis or weakness of one side of body	자주 (30–79%)
Abnormal myelination	가끔 (5–29%)
Absent/small cerebellum	가끔 (5–29%)
Autism	가끔 (5–29%)
Difficulty sleeping	가끔 (5–29%)
Extreme thirst	가끔 (5–29%)
Global developmental delay	가끔 (5–29%)
Mild global developmental delay	가끔 (5–29%)
Underdevelopment of part of brain called corpus callosum	가끔 (5–29%)
Intellectual disability, mild	기록되지 않음

Trait	나타나는 빈도
Optic nerve hypoplasia	매우 자주 (80–99%)
Septo-optic dysplasia	매우 자주 (80–99%)
Visual impairment	매우 자주 (80–99%)
Cross-eyed	자주 (30–79%)
Involuntary, rapid, rhythmic eye movements	자주 (30–79%)
Abnormal saccadic eye movements	가끔 (5–29%)
Gaze-evoked horizontal nystagmus	가끔 (5–29%)
Oculomotor apraxia	가끔 (5–29%)

Trait	나타나는 빈도
Ambiguous external genitalia	매우 자주 (80–99%)
Decreased testicular size	매우 자주 (80–99%)
Polycystic ovaries	매우 자주 (80–99%)
Abnormal absence of menstruation	자주 (30–79%)
Infertility	자주 (30–79%)
Underdeveloped penis	자주 (30–79%)
Undescended testes	자주 (30–79%)

Trait	나타나는 빈도
Abnormal connection between trachea and esophagus	가끔 (5–29%)
Birth defect in which part of esophagus did not develop	가끔 (5–29%)
Constipation	가끔 (5–29%)

Trait	나타나는 빈도
Abnormality of secondary sexual hair	자주 (30–79%)
Decreased ability to sweat	가끔 (5–29%)
Dry skin	가끔 (5–29%)

Trait	나타나는 빈도
Low blood pressure	자주 (30–79%)
Abnormal cardiovascular system morphology	가끔 (5–29%)

Trait	나타나는 빈도
Absent/small breasts	자주 (30–79%)

Trait	나타나는 빈도
Sensorineural hearing impairment	가끔 (5–29%)

Trait	나타나는 빈도
Fatigue	자주 (30–79%)

Trait	나타나는 빈도
Low blood sugar	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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