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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga NELFA seotud tunnused
negative elongation factor complex member A
Inimese fenotüübi ontoloogia seostab geeniga NELFA 95 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal lip | Väga sageli (80–99%) |
| Abnormality of the mouth | Väga sageli (80–99%) |
| Abnormality of the philtrum | Väga sageli (80–99%) |
| Abnormally small head | Väga sageli (80–99%) |
| Downturned corners of mouth | Väga sageli (80–99%) |
| Downward slanting of the opening between the eyelids | Väga sageli (80–99%) |
| Eye folds | Väga sageli (80–99%) |
| Failure of development of between one and six teeth | Väga sageli (80–99%) |
| Frontal bossing | Väga sageli (80–99%) |
| High forehead | Väga sageli (80–99%) |
| High frontal hairline | Väga sageli (80–99%) |
| Highly arched eyebrow | Väga sageli (80–99%) |
| Little lower jaw | Väga sageli (80–99%) |
| Long, narrow head | Väga sageli (80–99%) |
| Low hairline at back of neck | Väga sageli (80–99%) |
| Short philtrum | Väga sageli (80–99%) |
| Wide nasal bridge | Väga sageli (80–99%) |
| Cleft upper lip | Sageli (30–79%) |
| Cranial defect | Sageli (30–79%) |
| Delayed eruption of teeth | Sageli (30–79%) |
| Pit in front of the ear | Sageli (30–79%) |
| Taurodontia | Sageli (30–79%) |
| Cleft palate | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Väga sageli (80–99%) |
| Abnormal vertebral body morphology | Sageli (30–79%) |
| Abnormal vertebral morphology | Sageli (30–79%) |
| Abnormality of the chest | Sageli (30–79%) |
| Abnormality of the vertebral column | Sageli (30–79%) |
| Congenital diaphragmatic hernia | Sageli (30–79%) |
| Delayed bone maturation | Sageli (30–79%) |
| Hunched back | Sageli (30–79%) |
| Hypoplastic pubic ramus | Sageli (30–79%) |
| Rib fusion | Sageli (30–79%) |
| Rib segmentation abnormalities | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Hernia | Mõnikord (5–29%) |
| Osteoporosis | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Väga sageli (80–99%) |
| Cat eye | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Optic atrophy | Sageli (30–79%) |
| Bulging eye | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Enlarged cornea | Mõnikord (5–29%) |
| Glaucoma | Mõnikord (5–29%) |
| Hardening of skin and connective tissue | Mõnikord (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
| Noninflammatory retina disease | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ataxia | Väga sageli (80–99%) |
| Epilepsy | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Intellectual disability, severe | Väga sageli (80–99%) |
| Difficulty sleeping | Sageli (30–79%) |
| Tethered cord | Sageli (30–79%) |
| Abnormality of movement | Mõnikord (5–29%) |
| Absent/small cerebellum | Mõnikord (5–29%) |
| Agenesis of corpus callosum | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal feet structure | Sageli (30–79%) |
| Club feet | Sageli (30–79%) |
| Extra thumb | Sageli (30–79%) |
| Long slender fingers | Sageli (30–79%) |
| Short big toe | Sageli (30–79%) |
| Short thumb | Sageli (30–79%) |
| Split hand | Sageli (30–79%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hypospadias | Väga sageli (80–99%) |
| Abnormality of the kidney | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Abnormality of the reproductive system | Mõnikord (5–29%) |
| Absent uterus | Mõnikord (5–29%) |
| Streak ovary | Mõnikord (5–29%) |
| Urinary tract abnormalities | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiac septum morphology | Sageli (30–79%) |
| Abnormal cardiovascular system morphology | Sageli (30–79%) |
| Abnormal heart valve morphology | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Sageli (30–79%) |
| Strawberry mark | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Väga sageli (80–99%) |
| Small ears | Väga sageli (80–99%) |
| Hearing impairment | Sageli (30–79%) |
| Chronic infections of the middle ear | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Sageli (30–79%) |
| Abdominal situs inversus | Mõnikord (5–29%) |
| Abnormality of the gallbladder | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dry skin | Sageli (30–79%) |
| Focal absence of scalp tissue | Sageli (30–79%) |
| Spinal dimple | Sageli (30–79%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
| Prenatal growth deficiency | Väga sageli (80–99%) |
| Disproportionate tall stature | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the immune system | Mõnikord (5–29%) |
| Recurrent respiratory infections | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating IgA concentration | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Less than 10 fetal movements in 12 hours | Väga sageli (80–99%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent/small nipples | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent/small lungs | Sageli (30–79%) |
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 NELFA seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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