Traits

Traits linked to EVC2

EvC ciliary complex subunit 2

The Human Phenotype Ontology links 85 traits to EVC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Duplication of bones of the toes	Labai dažnai (80–99%)
Extra finger	Labai dažnai (80–99%)
Extra little finger	Labai dažnai (80–99%)
Knock knees	Labai dažnai (80–99%)
Short outermost finger bone	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Capitate-hamate fusion	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Overlapping fingers	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Fusion of wrist bones	Kartais (5–29%)
Outward turned elbows	Kartais (5–29%)
Acetabular spurs	Neužfiksuota
Club feet	Neužfiksuota
Cone-shaped end part of digital bones 2 to 5	Neužfiksuota
Extra toe attached near the little toe	Neužfiksuota
Short fingers or toes	Neužfiksuota
Short palm	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormal dentition	Labai dažnai (80–99%)
Abnormal oral frenulum morphology	Labai dažnai (80–99%)
Abnormality of lining of mouth	Labai dažnai (80–99%)
Cone shaped tooth	Labai dažnai (80–99%)
Early eruption of teeth	Labai dažnai (80–99%)
Failure of development of between one and six teeth	Labai dažnai (80–99%)
Only one upper front tooth	Labai dažnai (80–99%)
Cleft of the face	Dažnai (30–79%)
Cone shaped front tooth	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Decreased volume of lip	Kartais (5–29%)
Delayed eruption of teeth	Kartais (5–29%)
Abnormality of gum ridge	Neužfiksuota
Born with teeth	Neužfiksuota
Cleft upper lip	Neužfiksuota
Dandy-Walker malformation	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Abnormal fingernails	Labai dažnai (80–99%)
Abnormal toenail development	Labai dažnai (80–99%)
Abnormality of the hair	Labai dažnai (80–99%)
Abnormality of the nail	Labai dažnai (80–99%)
Abnormality of the toenail	Labai dažnai (80–99%)
Atypical nail growth	Labai dažnai (80–99%)
Poor nail formation	Labai dažnai (80–99%)
Small nail	Labai dažnai (80–99%)
Underdeveloped toenails	Labai dažnai (80–99%)
Abnormal hair quantity	Kartais (5–29%)
Ectodermal dysplasia	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Narrow chest	Labai dažnai (80–99%)
Shorter than typical length between neck and abdomen	Labai dažnai (80–99%)
Abnormal shape of pelvic girdle bone	Dažnai (30–79%)
Abnormality of the skeletal system	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Horizontal ribs	Neužfiksuota
Hypoplastic iliac wing	Neužfiksuota
Pigeon chest	Neužfiksuota
Short long bone	Neužfiksuota
Short ribs	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal heart valve morphology	Labai dažnai (80–99%)
Hole in center of heart	Labai dažnai (80–99%)
All organs on wrong side of body	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Heart tip and four chambers point towards right side of body	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Common atrium	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormality of the kidney	Dažnai (30–79%)
Abnormality of the ureter	Dažnai (30–79%)
Epispadias	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormal morphology of female internal genitalia	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Hydroureter	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Mild short stature	Labai dažnai (80–99%)
Neonatal short-limb short stature	Labai dažnai (80–99%)
Prenatal growth deficiency	Dažnai (30–79%)
Disproportionate short-limb short stature	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Acute blood cancer	Kartais (5–29%)
Bone marrow disease	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormal antihelix morphology	Dažnai (30–79%)
Prominent antihelix	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Abnormally close eyes	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Absent/small lungs	Dažnai (30–79%)
Emphysema	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intellectual disability	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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The Human Phenotype Ontology, release 2026-09-01: the traits linked to EVC2 and how often each is seen. Find out more at hpo.jax.org.

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