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Tunnused
Geeniga TM2D3 seotud tunnused
TM2 domain containing 3
Inimese fenotüübi ontoloogia seostab geeniga TM2D3 86 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cortical gyration | Alati |
| Absent speech development | Alati |
| Aggressive behavior | Alati |
| Cerebellar vermis hypoplasia | Alati |
| Delayed ability to walk | Alati |
| Delayed speech and language development | Alati |
| Difficulty staying asleep | Alati |
| Episodic hemiplegia | Alati |
| Fluid-filled cyst in spinal cord | Alati |
| Inability to coordinate movements when walking | Alati |
| Irritability | Alati |
| Pauses in breathing while sleeping | Alati |
| Repetitive movements | Alati |
| Seizure affecting one half of brain | Alati |
| Self-injurious behavior | Alati |
| Severe global developmental delay | Alati |
| Tearfulness | Alati |
| Teeth grinding | Alati |
| Thick corpus callosum | Alati |
| Underdeveloped frontal lobe | Alati |
| Wide based walk | Alati |
| Agitation | Sageli (30–79%) |
| Anxiety | Sageli (30–79%) |
| Autism spectrum disorder | Sageli (30–79%) |
| Dystonia | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Asymmetry of the posterior head | Alati |
| Beaked nose | Alati |
| Chronic rhinitis | Alati |
| Decreased size of tooth | Alati |
| Decreased volume of lip | Alati |
| Delayed eruption of baby teeth | Alati |
| Development of small head that was not present at birth | Alati |
| Downward slanting of the opening between the eyelids | Alati |
| Facial asymmetry | Alati |
| Flat face | Alati |
| Little lower jaw | Alati |
| Narrow mouth | Alati |
| Narrow nose | Alati |
| Pointed chin | Alati |
| Progressively abnormally small cranium | Alati |
| Sparse eyebrow | Alati |
| Thin red part of the upper lip | Alati |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| 3-4 finger cutaneous syndactyly | Alati |
| Increased muscle tone of arm or leg | Alati |
| Single transverse palmar crease | Alati |
| Supernumerary finger flexion crease | Alati |
| Webbed 2nd and 3rd toes | Alati |
| Webbed skin of 2nd-3rd toes | Alati |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hole in heart wall separating two lower heart chambers | Alati |
| Slow heartbeats | Alati |
| Patent foramen ovale | Sageli (30–79%) |
| Bilateral superior vena cava | Mõnikord (5–29%) |
| Patent ductus arteriosus | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Horner syndrome | Alati |
| Optic disc drusen | Alati |
| Cross-eyed | Sageli (30–79%) |
| Farsightedness | Sageli (30–79%) |
| Blindness | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bilateral cryptorchidism | Alati |
| Smaller than typical growth of scrotum | Alati |
| Horseshoe kidney | Sageli (30–79%) |
| Dilatation of renal calices | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dry hair | Alati |
| Dry skin | Alati |
| Hair loss | Alati |
| Spinal dimple | Alati |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Asthma | Alati |
| Bronchitis | Alati |
| Recurrent pneumonia | Alati |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone in trunk | Alati |
| Scoliosis | Alati |
| Spasticity and rigidity of muscles | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Alati |
| Less than 10 fetal movements in 12 hours | Alati |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chronic constipation | Alati |
| Feeding difficulties | Alati |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Alati |
| Low-set ears | Alati |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Increased respiratory rate or depth of breathing | Alati |
| Softening of voice box tissue | Alati |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Prenatal growth deficiency | Alati |
| Short stature | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pineal cyst | Alati |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pain | Alati |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga TM2D3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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