Traits

Traits linked to CCDC22

CCC complex scaffolding subunit CCDC22

The Human Phenotype Ontology links 88 traits to CCDC22, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Broad forehead	Visada
Broad neck	Visada
Low hairline at back of neck	Visada
Protruding tongue	Visada
Relatively large head	Visada
Short philtrum	Visada
Upward slanting of the opening between the eyelids	Visada
Wider-than-typical soft spot of skull	Visada
Abnormal cranial suture/fontanelle morphology	Labai dažnai (80–99%)
Dandy-Walker malformation	Labai dažnai (80–99%)
Frontal bossing	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Big calvaria	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
High, narrow palate	Dažnai (30–79%)
Prominent back of the head	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Cleft of the mouth	Kartais (5–29%)
Facial hemangioma	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Short neck	Kartais (5–29%)
Skin tag in front of the ear	Kartais (5–29%)
Beaked nose	Neužfiksuota
High palate	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal mitral valve morphology	Dažnai (30–79%)
Abnormal tricuspid valve morphology	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Hole in center of heart	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Narrowing of aortic valve	Dažnai (30–79%)
Narrowing of pulmonic valve	Dažnai (30–79%)
Tetralogy of Fallot	Dažnai (30–79%)
Underdeveloped left heart	Dažnai (30–79%)
Underdeveloped lung artery	Kartais (5–29%)
Patent ductus arteriosus	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Delayed ability to walk	Visada
Global developmental delay	Visada
Poor speech	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Absent/small cerebellum	Dažnai (30–79%)
Too much cerebrospinal fluid in the brain	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Abnormality of neuronal migration	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Broad big toe	Visada
Curvature of little finger	Visada
Overlapping toe	Visada
Permanent flexion of the finger	Visada
Prominent fingertip pads	Visada
Extra finger	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short outermost finger bone	Neužfiksuota
Webbed fingers or toes	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone	Visada
Permanent flexion of the finger or toe	Visada
Hunched back	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormality of the hip bone	Kartais (5–29%)
Missing part of vertebrae	Kartais (5–29%)
Missing ribs	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abnormal anus position	Kartais (5–29%)
Absent anus	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Inguinal hernia	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Wide-set eyes	Visada
Glaucoma	Dažnai (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Undescended testes	Dažnai (30–79%)
Hydronephrosis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Growth delay as children	Visada
Short stature	Dažnai (30–79%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Only one artery in umbilical cord instead of two	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Absent/small nipples	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Dažnai (30–79%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Small adrenal glands	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Small fingernail	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.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CCDC22 and how often each is seen. Find out more at hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test