Traits

Traits linked to RSPH4A

radial spoke head component 4A

The Human Phenotype Ontology links 56 traits to RSPH4A, by body system: features seen in people with one of the gene's rare conditions.

RSPH4A

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal central microtubular pair morphology of respiratory motile cilia	Always
Immotile cilia	Always
Decreased nasal nitric oxide	Very often (80–99%)
Abnormal sputum	Often (30–79%)
Neonatal respiratory distress	Often (30–79%)
Permanent enlargement of the airways of the lungs	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%)
Wheezing	Sometimes (5–29%)
Respiratory failure	Rarely (1–4%)
Ciliary dyskinesia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
All organs on wrong side of body	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%)
Multiple small spleens	Rarely (1–4%)
Persistent left superior vena cava	Rarely (1–4%)
Transposition of the great arteries	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Chronic rhinitis	Very often (80–99%)
Recurrent sinus disease	Very often (80–99%)
Blockage of nose	Often (30–79%)
Chronic sinus disease	Often (30–79%)
Nasal polyposis	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Reduced sperm motility	Always
Abnormal sperm motility	Often (30–79%)
Male infertility	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%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent sinus and lung infections	Often (30–79%)
Chronic bronchitis	Sometimes (5–29%)
Recurrent mycobacterial infections	Sometimes (5–29%)
Recurrent respiratory infections	Not recorded

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%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Not recorded

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 RSPH4A and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test