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	How often it is seen
Duplication of bones of the toes	Very often (80–99%)
Extra finger	Very often (80–99%)
Extra little finger	Very often (80–99%)
Knock knees	Very often (80–99%)
Short outermost finger bone	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Capitate-hamate fusion	Often (30–79%)
Curvature of little finger	Often (30–79%)
Overlapping fingers	Often (30–79%)
Small hand	Often (30–79%)
Fusion of wrist bones	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)
Acetabular spurs	Not recorded
Club feet	Not recorded
Cone-shaped end part of digital bones 2 to 5	Not recorded
Extra toe attached near the little toe	Not recorded
Short fingers or toes	Not recorded
Short palm	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Very often (80–99%)
Abnormal oral frenulum morphology	Very often (80–99%)
Abnormality of lining of mouth	Very often (80–99%)
Cone shaped tooth	Very often (80–99%)
Early eruption of teeth	Very often (80–99%)
Failure of development of between one and six teeth	Very often (80–99%)
Only one upper front tooth	Very often (80–99%)
Cleft of the face	Often (30–79%)
Cone shaped front tooth	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Abnormality of gum ridge	Not recorded
Born with teeth	Not recorded
Cleft upper lip	Not recorded
Dandy-Walker malformation	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Very often (80–99%)
Abnormal toenail development	Very often (80–99%)
Abnormality of the hair	Very often (80–99%)
Abnormality of the nail	Very often (80–99%)
Abnormality of the toenail	Very often (80–99%)
Atypical nail growth	Very often (80–99%)
Poor nail formation	Very often (80–99%)
Small nail	Very often (80–99%)
Underdeveloped toenails	Very often (80–99%)
Abnormal hair quantity	Sometimes (5–29%)
Ectodermal dysplasia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Narrow chest	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Often (30–79%)
Abnormality of the skeletal system	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Horizontal ribs	Not recorded
Hypoplastic iliac wing	Not recorded
Pigeon chest	Not recorded
Short long bone	Not recorded
Short ribs	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormal heart valve morphology	Very often (80–99%)
Hole in center of heart	Very often (80–99%)
All organs on wrong side of body	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Heart tip and four chambers point towards right side of body	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Common atrium	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Often (30–79%)
Abnormality of the ureter	Often (30–79%)
Epispadias	Often (30–79%)
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Mild short stature	Very often (80–99%)
Neonatal short-limb short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Disproportionate short-limb short stature	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute blood cancer	Sometimes (5–29%)
Bone marrow disease	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormal antihelix morphology	Often (30–79%)
Prominent antihelix	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Abnormally close eyes	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	Often (30–79%)
Emphysema	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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