Traits

Traits linked to RPL3L

ribosomal protein L3 like

The Human Phenotype Ontology links 23 traits to RPL3L, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Interstitial cardiac fibrosis	Always
Reduced left ventricular ejection fraction	Always
Stretched and thinned heart muscle	Always
Left ventricular systolic dysfunction	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Tricuspid regurgitation	Often (30–79%)
Cardiogenic shock	Sometimes (5–29%)
Muscular ventricular septal defect	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Right atrial enlargement	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Perinuclear cardiomyocyte vacuolization	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of the ear

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

Constitutional symptom

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

Laboratory abnormality

Trait	How often it is seen
Fluid retention	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 RPL3L and how often each is seen. Find out more at hpo.jax.org.

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