Traits

Traits linked to RRM1

ribonucleotide reductase catalytic subunit M1

The Human Phenotype Ontology links 58 traits to RRM1, 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
Loss of ability to walk	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Sensory axonal neuropathy	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormal cerebrospinal fluid morphology	Sometimes (5–29%)
Absent reflexes	Sometimes (5–29%)
Action tremor	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Decreased sensation in extremities	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Nerve damage causing decreased feeling and movement	Sometimes (5–29%)
Parkinsonism with favorable response to dopaminergic medication	Sometimes (5–29%)
Shuffled walk	Sometimes (5–29%)
Slow movements	Sometimes (5–29%)
Stooped posture	Sometimes (5–29%)
Cognitive impairment	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Always
Cytochrome C oxidase-negative muscle fibers	Often (30–79%)
Mitochondrial myopathy	Often (30–79%)
Muscle degeneration	Often (30–79%)
Ragged-red muscle fibers	Often (30–79%)
Centrally nucleated skeletal muscle fibers	Sometimes (5–29%)
Cogwheel rigidity	Sometimes (5–29%)
Muscle fiber degeneration	Sometimes (5–29%)
Muscle stiffness	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Eye muscle paralysis	Always
Paralysis or weakness of muscles within or surrounding outer part of eye	Often (30–79%)
Color blindness	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Optic neuritis	Sometimes (5–29%)
Retina issue	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Gastrointestinal dysmotility	Often (30–79%)
Nausea	Often (30–79%)
Vomiting	Often (30–79%)
Delayed gastric emptying	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Often (30–79%)
Expressionless face	Often (30–79%)
Weakness of facial musculature	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Very often (80–99%)
Hand muscle weakness	Sometimes (5–29%)
Winged shoulder blade	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Elevated circulating alanine aminotransferase concentration	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Multiple mitochondrial DNA deletions	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Weak voice	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Wasting syndrome	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 RRM1 and how often each is seen. Find out more at hpo.jax.org.

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