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Traits
Traits linked to GTF2E2
general transcription factor IIE subunit 2
The Human Phenotype Ontology links 104 traits to GTF2E2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Always |
| Abnormal pyramidal sign | Sometimes (5–29%) |
| Cerebral dysmyelination | Sometimes (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Sometimes (5–29%) |
| Decreased reflex response | Sometimes (5–29%) |
| Difficulty articulating speech | Sometimes (5–29%) |
| Diffuse cerebellar atrophy | Sometimes (5–29%) |
| Generalized hyperreflexia | Sometimes (5–29%) |
| Generalized-onset seizure | Sometimes (5–29%) |
| Inability to coordinate movements when walking | Sometimes (5–29%) |
| Intention tremor | Sometimes (5–29%) |
| Paraplegia/paraparesis | Sometimes (5–29%) |
| Partial agenesis of the corpus callosum | Sometimes (5–29%) |
| Peripheral neuropathy | Sometimes (5–29%) |
| Periventricular leukomalacia | Sometimes (5–29%) |
| Poor social interactions | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
| Wide based walk | Sometimes (5–29%) |
| IQ between 34 and 49 | Not recorded |
| Long-tract sign | Not recorded |
| Motor delay | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Always |
| Absence of scalp hair | Sometimes (5–29%) |
| Bird-like facial appearance | Sometimes (5–29%) |
| Coarse facial features | Sometimes (5–29%) |
| Deformity of the skull | Sometimes (5–29%) |
| Dental cavities | Sometimes (5–29%) |
| Dry eye syndrome | Sometimes (5–29%) |
| Everted eyelid | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| High, narrow palate | Sometimes (5–29%) |
| Hypoplasia of mandible relative to maxilla | Sometimes (5–29%) |
| Pink eye | Sometimes (5–29%) |
| Receding chin | Sometimes (5–29%) |
| Sparse scalp hair | Sometimes (5–29%) |
| Thin dental enamel | Sometimes (5–29%) |
| Coronal craniosynostosis | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Brittle hair | Always |
| Dry skin | Always |
| Ichthyosis | Always |
| Tiger tail banding | Always |
| Absent/small nails | Sometimes (5–29%) |
| Brittle nails | Sometimes (5–29%) |
| Grooved nails | Sometimes (5–29%) |
| Longitudinal splitting of nail | Sometimes (5–29%) |
| Numerous pigmented freckles | Sometimes (5–29%) |
| Photosensitive skin | Sometimes (5–29%) |
| Poor fingernail formation | Sometimes (5–29%) |
| Prematurely aged appearance | Sometimes (5–29%) |
| Spoon-shaped nails | Sometimes (5–29%) |
| Squamous cell carcinoma | Sometimes (5–29%) |
| Slow-growing hair | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormally close eyes | Sometimes (5–29%) |
| Abnormally small eyeball on both sides | Sometimes (5–29%) |
| Astigmatism | Sometimes (5–29%) |
| Close sighted | Sometimes (5–29%) |
| Clouding of the lens of the eye at birth | Sometimes (5–29%) |
| Cornea of eye less than 10mm in diameter | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Extreme sensitivity of the eyes to light | Sometimes (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Inward turning cross eyed | Sometimes (5–29%) |
| Macular degeneration | Sometimes (5–29%) |
| Retina degeneration | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Delayed bone maturation | Often (30–79%) |
| Absent fat below the skin | Sometimes (5–29%) |
| Generalized decreased muscle tone | Sometimes (5–29%) |
| Increased bone mineral density | Sometimes (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Sometimes (5–29%) |
| Joint dislocation | Sometimes (5–29%) |
| Multiple joint contractures | Sometimes (5–29%) |
| Osteopenia | Sometimes (5–29%) |
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
| Thoracic kyphosis | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Decreased mean corpuscular volume | Always |
| Increased HbA2 hemoglobin | Always |
| Increased mean corpuscular hemoglobin concentration | Sometimes (5–29%) |
| Low blood neutrophil count | Sometimes (5–29%) |
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Congenital exfoliative erythroderma | Sometimes (5–29%) |
| Eczema | Sometimes (5–29%) |
| Recurrent infections | Sometimes (5–29%) |
| Recurrent infections in bronchi and lungs | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Always |
| Prenatal growth deficiency | Sometimes (5–29%) |
| Mild intrauterine growth retardation | Not recorded |
| Small for gestational age | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Clubbing of fingers and toes | Sometimes (5–29%) |
| Coxa valga | Sometimes (5–29%) |
| High-arched foot | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Defective DNA repair after ultraviolet radiation damage | Sometimes (5–29%) |
| Panhypogammaglobulinemia | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Disease of the heart muscle | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Bilateral sensorineural hearing impairment | Sometimes (5–29%) |
| Prominent ear | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Gonadal dysgenesis | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Abnormality of prenatal development or birth | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Low-set nipples | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Umbilical hernia | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Bronchoconstriction | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Inability to produce voice sounds | Sometimes (5–29%) |
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 GTF2E2 and how often each is seen. Find out more at hpo.jax.org.
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