Traits

Traits linked to SOX2

SRY-box transcription factor 2

The Human Phenotype Ontology links 73 traits to SOX2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	Hvor ofte den forekommer
Optic nerve aplasia	Alltid
Abnormal choroid morphology	Svært ofte (80–99 %)
Abnormally small eyeball	Svært ofte (80–99 %)
Absence of eyeballs	Svært ofte (80–99 %)
Cross-eyed	Svært ofte (80–99 %)
Glaucoma	Svært ofte (80–99 %)
Optic nerve hypoplasia	Svært ofte (80–99 %)
Septo-optic dysplasia	Svært ofte (80–99 %)
Severe farsightedness	Svært ofte (80–99 %)
Visual impairment	Svært ofte (80–99 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Visual loss	Ofte (30–79 %)
Abnormal retinal pigmentation	Noen ganger (5–29 %)
Cat eye	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Hardening of skin and connective tissue	Noen ganger (5–29 %)
Notched pupil	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Global developmental delay	Alltid
Absent septum pellucidum	Ofte (30–79 %)
Agenesis of corpus callosum	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Paralysis or weakness of one side of body	Ofte (30–79 %)
Absent/small cerebellum	Noen ganger (5–29 %)
Autism	Noen ganger (5–29 %)
Difficulty sleeping	Noen ganger (5–29 %)
Extreme thirst	Noen ganger (5–29 %)
Holoprosencephaly	Noen ganger (5–29 %)
Intellectual disability	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Hypothalamic hamartoma	Ikke registrert
Specific learning disability	Ikke registrert
Underdevelopment of part of brain called corpus callosum	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
11 pairs of ribs	Noen ganger (5–29 %)
Abnormal vertebral morphology	Noen ganger (5–29 %)
Missing part of vertebrae	Noen ganger (5–29 %)
Butterfly vertebrae	Ikke registrert
Extra ribs	Ikke registrert
Generalized decreased muscle tone	Ikke registrert
Low muscle tone	Ikke registrert
Missing ribs	Ikke registrert
Rib fusion	Ikke registrert
Spastic diplegia	Ikke registrert
Spastic tetraplegia	Ikke registrert
Underdeveloped vertebrae	Ikke registrert
Vertebral fusion	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Cleft palate	Ofte (30–79 %)
Lost smell	Noen ganger (5–29 %)
Abnormally small head	Ikke registrert
Frontal bossing	Ikke registrert

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormality of the hypothalamus-pituitary axis	Ofte (30–79 %)
Underdeveloped pituitary gland	Ofte (30–79 %)
Diabetes insipidus	Noen ganger (5–29 %)
Hypogonadotropic hypogonadism	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Underdeveloped penis	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Hypospadias	Noen ganger (5–29 %)
Short penis	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	Ofte (30–79 %)
Growth delay	Noen ganger (5–29 %)
Obesity	Noen ganger (5–29 %)
Growth delay as children	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Abnormal connection between trachea and esophagus	Svært ofte (80–99 %)
Birth defect in which part of esophagus did not develop	Svært ofte (80–99 %)
Constipation	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Bilateral sensorineural hearing impairment	Alltid
Hearing impairment	Ofte (30–79 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Decreased ability to sweat	Noen ganger (5–29 %)
Dry skin	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SOX2 and how often each is seen. Find out more at hpo.jax.org.

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