Traits

Traits linked to RFC1

replication factor C subunit 1

The Human Phenotype Ontology links 37 traits to RFC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Axonal loss	Always
Decreased distal sensory nerve action potential	Always
Inability to coordinate movements when walking	Always
Peripheral neuropathy	Always
Cerebellar vermis atrophy	Very often (80–99%)
Degeneration of cerebellum	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Limb ataxia	Very often (80–99%)
Abnormal rapid eye movement sleep	Often (30–79%)
Absent reflexes	Often (30–79%)
Babinski sign	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Demyelinating peripheral neuropathy	Often (30–79%)
Difficulty performing quick and alternating movements	Often (30–79%)
Impaired pain sensation	Often (30–79%)
Impaired vibratory sensation	Often (30–79%)
Intention tremor	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Progressive cerebellar ataxia	Often (30–79%)
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Balance impairment	Not recorded
Positive Romberg sign	Not recorded

Abnormality of the eye

Trait	How often it is seen
Gaze-evoked nystagmus	Always
Saccadic smooth pursuit interruptions	Always
Downbeat nystagmus	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic atrophy	Often (30–79%)
Impaired horizontal smooth pursuit	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Vestibular areflexia	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Multiple joint contractures	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Absent ankle reflexes	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	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 RFC1 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