Traits

Traits linked to CFAP20

cilia and flagella associated protein 20

The Human Phenotype Ontology links 50 traits to CFAP20, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Abnormal electroretinogram	Always
Difficulties with night vision	Always
Lazy eye	Always
Limited peripheral vision	Always
Mild myopia	Always
Mildly reduced visual acuity	Always
Moderate visual impairment	Always
Retinal pigment epithelial atrophy	Always
Severe near sightedness	Always
Spicular pigmentation of the retina	Always
Ultra-low vision with retained light perception	Always
Undetectable dark-adapted electroretinogram	Always
Undetectable light-adapted electroretinogram	Always
Abnormal retinal pigmentation	Very often (80–99%)
Blindness	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Bulging cornea	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Reduced attention regulation	Always
Motor delay	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Grand mal seizures	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always
Abnormality of retina blood vessels	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Often (30–79%)
Low sperm count	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic diplegia	Always
Spasticity and rigidity of muscles	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Often (30–79%)

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 CFAP20 and how often each is seen. Find out more at hpo.jax.org.

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