Traits

Traits linked to SPEF2

sperm flagellar and cilia associated 2

The Human Phenotype Ontology links 50 traits to SPEF2, by body system: features seen in people with one of the gene's rare conditions.

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 the respiratory system

Trait	How often it is seen
Abnormal sputum	Often (30–79%)
Neonatal respiratory distress	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%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)
Pulmonary situs ambiguus	Sometimes (5–29%)
Wheezing	Sometimes (5–29%)
Respiratory failure	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent sperm axoneme central pair complex	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%)
Absent sperm flagella	Not recorded
Coiled sperm flagella	Not recorded
Reduced sperm motility	Not recorded

Abnormality of head or neck

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

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 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 the immune system

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

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%)

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 SPEF2 and how often each is seen. Find out more at hpo.jax.org.

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