Traits

Traits linked to CFAP410

cilia and flagella associated protein 410

The Human Phenotype Ontology links 90 traits to CFAP410, 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
Breakdown of light-sensitive cells in back of eye	Always
Difficulties with night vision	Always
Optic atrophy	Always
Posterior staphyloma	Always
Retinal pigment epithelial mottling	Always
Abnormal retinal pigmentation	Very often (80–99%)
Cone/cone-rod dystrophy	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Rod-cone dystrophy	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Blind spot located at fixation point	Often (30–79%)
Color blindness	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Optic disc pallor	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Retinal atrophy	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Retina degeneration	Not recorded
Yellowish cloudy center of lens	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Lou Gehrig's disease	Always
Motor neuron atrophy	Very often (80–99%)
Ongoing loss of nerve cells	Very often (80–99%)
Anxiety	Often (30–79%)
Babinski sign	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Can't control feelings	Often (30–79%)
Cognitive impairment	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Hoffmann sign	Often (30–79%)
Increased reflexes	Often (30–79%)
Muscle twitch	Often (30–79%)
Paralysis	Often (30–79%)
Difficulty sleeping	Sometimes (5–29%)
Frontotemporal dementia	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Jaw hyperreflexia	Sometimes (5–29%)
Language impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized muscle weakness	Very often (80–99%)
Disproportionate short-trunked short stature	Often (30–79%)
Distal muscle wasting	Often (30–79%)
Fatigable weakness of bulbar muscles	Often (30–79%)
Fatigable weakness of respiratory muscles	Often (30–79%)
Fatigable weakness of swallowing muscles	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Muscle degeneration	Often (30–79%)
Muscle spasm	Often (30–79%)
Progressive distal muscular atrophy	Often (30–79%)
Scoliosis	Often (30–79%)
Narrow chest	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Anterior rib cupping	Not recorded
Flattened vertebrae	Not recorded
Narrow greater sciatic notch	Not recorded
Small chest	Not recorded
Spondylometaphyseal dysplasia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Disproportionately short upper portion of limb	Always
Decreased arm strength	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Foot drop	Sometimes (5–29%)
Coxa vara	Not recorded
Proximal femoral metaphyseal irregularity	Not recorded
Short neck of thighbone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality on pulmonary function testing	Often (30–79%)
Breathing difficulty	Often (30–79%)
Respiratory failure	Often (30–79%)
Orthopnea	Sometimes (5–29%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)
Laryngospasm	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Decreased salivary flow	Often (30–79%)
Drooling	Often (30–79%)
Wasting of the tongue	Often (30–79%)
Tongue twitching	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Truncal obesity	Often (30–79%)
Weight loss	Often (30–79%)
Wasting syndrome	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always
Increased spleen size	Sometimes (5–29%)

Constitutional symptom

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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Reduced sperm motility	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	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 CFAP410 and how often each is seen. Find out more at hpo.jax.org.

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