Traits

Traits linked to CFAP54

cilia and flagella associated protein 54

The Human Phenotype Ontology links 16 traits to CFAP54, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal sperm axoneme morphology	Always
Absent sperm flagella	Always
Irregularly shaped sperm tail	Always
Low sperm count	Always
Male infertility	Always
Reduced progressive sperm motility	Always
Reduced sperm motility	Always
Short sperm flagella	Always
Coiled sperm flagella	Often (30–79%)
Low semen volume	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Always
Pneumonia	Always
Recurrent bronchitis	Always

Abnormality of the respiratory system

Trait	How often it is seen
Partial or complete collapse of part or entire lung	Always
Permanent enlargement of the airways of the lungs	Always
Wet cough	Always

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 CFAP54 and how often each is seen. Find out more at hpo.jax.org.

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