Traits

Traits linked to CCDC39

coiled-coil domain 39 molecular ruler complex subunit

The Human Phenotype Ontology links 59 traits to CCDC39, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Always
Runny Nose	Always
Wheezing	Always
Neonatal respiratory distress	Very often (80–99%)
Permanent enlargement of the airways of the lungs	Very often (80–99%)
Abnormal sputum	Often (30–79%)
Respiratory tract infection	Often (30–79%)
Wet cough	Often (30–79%)
Lithoptysis	Sometimes (5–29%)
Obstructive lung disease	Sometimes (5–29%)
Partial or complete collapse of part or entire lung	Sometimes (5–29%)
Peribronchovascular interstitial thickening	Sometimes (5–29%)
Pulmonary situs ambiguus	Sometimes (5–29%)
Respiratory failure	Rarely (1–4%)
Abnormal axonemal organization of respiratory motile cilia	Not recorded
Abnormal ciliary motility	Not recorded
Absent inner dynein arms	Not recorded
Ciliary dyskinesia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
All organs on wrong side of body	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
Multiple small spleens	Sometimes (5–29%)
Abnormal inferior vena cava morphology	Rarely (1–4%)
Abnormal location of heart atrium	Rarely (1–4%)
Absent spleen	Rarely (1–4%)
Anomalous pulmonary venous return	Rarely (1–4%)
Atrial situs ambiguous	Rarely (1–4%)
Double outlet right ventricle	Rarely (1–4%)
Persistent left superior vena cava	Rarely (1–4%)
Transposition of the great arteries	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Immotile sperm	Always
Abnormal sperm motility	Often (30–79%)
Male infertility	Often (30–79%)
Reduced sperm motility	Often (30–79%)
Abnormality of the genitourinary system	Sometimes (5–29%)
Female infertility	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Middle ear infection	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Chronic bronchitis	Always
Recurrent respiratory infections	Always
Recurrent pneumonia	Often (30–79%)
Recurrent sinus and lung infections	Often (30–79%)
Recurrent mycobacterial infections	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Chronic sinus disease	Always
Blockage of nose	Often (30–79%)
Chronic rhinitis	Often (30–79%)
Nasal polyposis	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Sometimes (5–29%)
Morphological central nervous system abnormality	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Rarely (1–4%)
Ventriculomegaly	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Rod-cone dystrophy	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the skeletal system	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Heterotaxy	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 CCDC39 and how often each is seen. Find out more at hpo.jax.org.

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