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.

CCDC22

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Always
Broad neck	Always
Low hairline at back of neck	Always
Protruding tongue	Always
Relatively large head	Always
Short philtrum	Always
Upward slanting of the opening between the eyelids	Always
Wider-than-typical soft spot of skull	Always
Abnormal cranial suture/fontanelle morphology	Very often (80–99%)
Dandy-Walker malformation	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Big calvaria	Often (30–79%)
Cleft palate	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
High, narrow palate	Often (30–79%)
Prominent back of the head	Often (30–79%)
Short nose	Often (30–79%)
Cleft of the mouth	Sometimes (5–29%)
Facial hemangioma	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Beaked nose	Not recorded
High palate	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal mitral valve morphology	Often (30–79%)
Abnormal tricuspid valve morphology	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in center of heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Narrowing of aortic valve	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Underdeveloped left heart	Often (30–79%)
Underdeveloped lung artery	Sometimes (5–29%)
Patent ductus arteriosus	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Global developmental delay	Always
Poor speech	Always
Abnormal speech pattern	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Absent/small cerebellum	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Always
Curvature of little finger	Always
Overlapping toe	Always
Permanent flexion of the finger	Always
Prominent fingertip pads	Always
Extra finger	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Short outermost finger bone	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Permanent flexion of the finger or toe	Always
Hunched back	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormality of the hip bone	Sometimes (5–29%)
Missing part of vertebrae	Sometimes (5–29%)
Missing ribs	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal anus position	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Glaucoma	Often (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Always
Short stature	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Absent/small nipples	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Small adrenal glands	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Small fingernail	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 CCDC22 and how often each is seen. Find out more at hpo.jax.org.

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