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Traits
Traits linked to THOC2
THO complex subunit 2
The Human Phenotype Ontology links 77 traits to THOC2, by body system: features seen in people with one of the gene's rare conditions.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Delayed speech and language development | Foarte des (80–99%) |
| Intellectual disability | Foarte des (80–99%) |
| Abnormal cerebral white matter morphology | Des (30–79%) |
| Abnormal gait | Des (30–79%) |
| Behavioral abnormality | Des (30–79%) |
| Intellectual disability, mild | Des (30–79%) |
| IQ between 34 and 49 | Des (30–79%) |
| Tremor | Des (30–79%) |
| Ventriculomegaly | Des (30–79%) |
| Abnormality of neuronal migration | Uneori (5–29%) |
| Abnormality of the cerebellum | Uneori (5–29%) |
| Anxiety | Uneori (5–29%) |
| Autism spectrum disorder | Uneori (5–29%) |
| Cerebellar dysplasia | Uneori (5–29%) |
| Cerebellar vermis hypoplasia | Uneori (5–29%) |
| Depression | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
| Gliosis | Uneori (5–29%) |
| Grand mal seizures | Uneori (5–29%) |
| Hyperactive movements | Uneori (5–29%) |
| Intellectual disability, severe | Uneori (5–29%) |
| Repetitive movements | Uneori (5–29%) |
| Self-mutilation | Uneori (5–29%) |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Big calvaria | Întotdeauna |
| Depressed nasal bridge | Întotdeauna |
| Little lower jaw | Întotdeauna |
| Nasal tip, upturned | Întotdeauna |
| Short columella | Întotdeauna |
| Abnormally small head | Des (30–79%) |
| High palate | Des (30–79%) |
| Broad forehead | Uneori (5–29%) |
| Enlargement of skull bones | Uneori (5–29%) |
| High forehead | Uneori (5–29%) |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Club feet | Întotdeauna |
| Fixed elbow flexion | Întotdeauna |
| Hand clenching | Întotdeauna |
| Hip flexion contracture | Întotdeauna |
| Knee extension contracture | Întotdeauna |
| Rocker bottom foot | Întotdeauna |
| Partial hip dislocation | Uneori (5–29%) |
| Single transverse palmar crease | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Arthrogryposis multiplex congenita | Întotdeauna |
| Increased variability in muscle fiber diameter | Întotdeauna |
| Low muscle tone | Des (30–79%) |
| Abnormal formation of the hip | Uneori (5–29%) |
| Double-Jointed | Uneori (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Uneori (5–29%) |
| Uncontrollable movement in upper arms | Uneori (5–29%) |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| Fetal hydrothorax | Întotdeauna |
| High levels of amniotic fluid | Întotdeauna |
| Less than 10 fetal movements in 12 hours | Întotdeauna |
| Short fetal thigh bone length | Întotdeauna |
| Fetal ascites | Des (30–79%) |
| Premature birth | Uneori (5–29%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Cross-eyed | Uneori (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Uneori (5–29%) |
| Outward facing eye ball | Uneori (5–29%) |
| Visual impairment | Uneori (5–29%) |
| Wide-set eyes | Uneori (5–29%) |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Overweight | Des (30–79%) |
| Short stature | Des (30–79%) |
| Small for gestational age | Uneori (5–29%) |
| Truncal obesity | Uneori (5–29%) |
| Increased body mass index | Rar (1–4%) |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Microphallus | Des (30–79%) |
| Decreased testicular size | Uneori (5–29%) |
| Short penis | Uneori (5–29%) |
| Undescended testes | Uneori (5–29%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Large ears | Uneori (5–29%) |
| Sensorineural hearing impairment | Uneori (5–29%) |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Poorly developed lungs | Întotdeauna |
| Pulmonary scarring | Uneori (5–29%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Fetal skin edema | Întotdeauna |
| Nonimmune hydrops fetalis | Întotdeauna |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Heart attack | Uneori (5–29%) |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Feeding difficulties | Uneori (5–29%) |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Decreased response to growth hormone stimulation test | Uneori (5–29%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to THOC2 and how often each is seen. Find out more at hpo.jax.org.
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