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	Hvor ofte det ses
Broad forehead	Altid
Broad neck	Altid
Low hairline at back of neck	Altid
Protruding tongue	Altid
Relatively large head	Altid
Short philtrum	Altid
Upward slanting of the opening between the eyelids	Altid
Wider-than-typical soft spot of skull	Altid
Abnormal cranial suture/fontanelle morphology	Meget ofte (80–99 %)
Dandy-Walker malformation	Meget ofte (80–99 %)
Frontal bossing	Meget ofte (80–99 %)
Wide nasal bridge	Meget ofte (80–99 %)
Big calvaria	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Depressed nasal bridge	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
High, narrow palate	Ofte (30–79 %)
Prominent back of the head	Ofte (30–79 %)
Short nose	Ofte (30–79 %)
Cleft of the mouth	Nogle gange (5–29 %)
Facial hemangioma	Nogle gange (5–29 %)
Little lower jaw	Nogle gange (5–29 %)
Short neck	Nogle gange (5–29 %)
Skin tag in front of the ear	Nogle gange (5–29 %)
Beaked nose	Ikke registreret
High palate	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Abnormal mitral valve morphology	Ofte (30–79 %)
Abnormal tricuspid valve morphology	Ofte (30–79 %)
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Hole in center of heart	Ofte (30–79 %)
Hole in heart wall separating two lower heart chambers	Ofte (30–79 %)
Narrowing of aortic valve	Ofte (30–79 %)
Narrowing of pulmonic valve	Ofte (30–79 %)
Tetralogy of Fallot	Ofte (30–79 %)
Underdeveloped left heart	Ofte (30–79 %)
Underdeveloped lung artery	Nogle gange (5–29 %)
Patent ductus arteriosus	Ikke registreret

Abnormality of the nervous system

Trait	Hvor ofte det ses
Delayed ability to walk	Altid
Global developmental delay	Altid
Poor speech	Altid
Abnormal speech pattern	Meget ofte (80–99 %)
Intellectual disability	Meget ofte (80–99 %)
Absent/small cerebellum	Ofte (30–79 %)
Too much cerebrospinal fluid in the brain	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Abnormality of neuronal migration	Nogle gange (5–29 %)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Nogle gange (5–29 %)
Small cerebellum	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Broad big toe	Altid
Curvature of little finger	Altid
Overlapping toe	Altid
Permanent flexion of the finger	Altid
Prominent fingertip pads	Altid
Extra finger	Nogle gange (5–29 %)
Finger syndactyly	Nogle gange (5–29 %)
Short fingers or toes	Nogle gange (5–29 %)
Short outermost finger bone	Ikke registreret
Webbed fingers or toes	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Low muscle tone	Altid
Permanent flexion of the finger or toe	Altid
Hunched back	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Abnormality of the hip bone	Nogle gange (5–29 %)
Missing part of vertebrae	Nogle gange (5–29 %)
Missing ribs	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Abnormal anus position	Nogle gange (5–29 %)
Absent anus	Nogle gange (5–29 %)
Acid reflux	Nogle gange (5–29 %)
Feeding difficulties in infancy	Nogle gange (5–29 %)
Inguinal hernia	Nogle gange (5–29 %)
Intestinal malrotation	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Wide-set eyes	Altid
Glaucoma	Ofte (30–79 %)
Birth defect that causes a hole in the innermost layer at the back of the eye	Nogle gange (5–29 %)
Cat eye	Nogle gange (5–29 %)
Optic atrophy	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Undescended testes	Ofte (30–79 %)
Hydronephrosis	Nogle gange (5–29 %)
Hypospadias	Nogle gange (5–29 %)
Underdeveloped penis	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Growth delay as children	Altid
Short stature	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Only one artery in umbilical cord instead of two	Nogle gange (5–29 %)

Abnormality of the breast

Trait	Hvor ofte det ses
Absent/small nipples	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Low-set ears	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Small adrenal glands	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent respiratory infections	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Small fingernail	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test