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	Cât de frecvent apare
Duplication of bones of the toes	Foarte des (80–99%)
Extra finger	Foarte des (80–99%)
Extra little finger	Foarte des (80–99%)
Knock knees	Foarte des (80–99%)
Short outermost finger bone	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Capitate-hamate fusion	Des (30–79%)
Curvature of little finger	Des (30–79%)
Overlapping fingers	Des (30–79%)
Small hand	Des (30–79%)
Fusion of wrist bones	Uneori (5–29%)
Outward turned elbows	Uneori (5–29%)
Acetabular spurs	Neînregistrat
Club feet	Neînregistrat
Cone-shaped end part of digital bones 2 to 5	Neînregistrat
Extra toe attached near the little toe	Neînregistrat
Short fingers or toes	Neînregistrat
Short palm	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormal dentition	Foarte des (80–99%)
Abnormal oral frenulum morphology	Foarte des (80–99%)
Abnormality of lining of mouth	Foarte des (80–99%)
Cone shaped tooth	Foarte des (80–99%)
Early eruption of teeth	Foarte des (80–99%)
Failure of development of between one and six teeth	Foarte des (80–99%)
Only one upper front tooth	Foarte des (80–99%)
Cleft of the face	Des (30–79%)
Cone shaped front tooth	Des (30–79%)
Decreased size of tooth	Des (30–79%)
Decreased volume of lip	Uneori (5–29%)
Delayed eruption of teeth	Uneori (5–29%)
Abnormality of gum ridge	Neînregistrat
Born with teeth	Neînregistrat
Cleft upper lip	Neînregistrat
Dandy-Walker malformation	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Abnormal fingernails	Foarte des (80–99%)
Abnormal toenail development	Foarte des (80–99%)
Abnormality of the hair	Foarte des (80–99%)
Abnormality of the nail	Foarte des (80–99%)
Abnormality of the toenail	Foarte des (80–99%)
Atypical nail growth	Foarte des (80–99%)
Poor nail formation	Foarte des (80–99%)
Small nail	Foarte des (80–99%)
Underdeveloped toenails	Foarte des (80–99%)
Abnormal hair quantity	Uneori (5–29%)
Ectodermal dysplasia	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Narrow chest	Foarte des (80–99%)
Shorter than typical length between neck and abdomen	Foarte des (80–99%)
Abnormal shape of pelvic girdle bone	Des (30–79%)
Abnormality of the skeletal system	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Horizontal ribs	Neînregistrat
Hypoplastic iliac wing	Neînregistrat
Pigeon chest	Neînregistrat
Short long bone	Neînregistrat
Short ribs	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal heart valve morphology	Foarte des (80–99%)
Hole in center of heart	Foarte des (80–99%)
All organs on wrong side of body	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Heart tip and four chambers point towards right side of body	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Common atrium	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormality of the kidney	Des (30–79%)
Abnormality of the ureter	Des (30–79%)
Epispadias	Des (30–79%)
Hypospadias	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormal morphology of female internal genitalia	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Hydroureter	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Mild short stature	Foarte des (80–99%)
Neonatal short-limb short stature	Foarte des (80–99%)
Prenatal growth deficiency	Des (30–79%)
Disproportionate short-limb short stature	Neînregistrat

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Acute blood cancer	Uneori (5–29%)
Bone marrow disease	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Abnormal antihelix morphology	Des (30–79%)
Prominent antihelix	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Abnormally close eyes	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Absent/small lungs	Des (30–79%)
Emphysema	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Intellectual disability	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 EVC2 and how often each is seen. Find out more at hpo.jax.org.

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