Traits

Traits linked to MRPL3

mitochondrial ribosomal protein L3

The Human Phenotype Ontology links 18 traits to MRPL3, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated lactate:pyruvate ratio	Always
Elevated serum anion gap	Always
Fatty infiltration of liver	Always
Higher than normal levels of lactate in blood	Always
Ketoacidosis	Always
Metabolic acidosis	Always
Elevated circulating alanine aminotransferase concentration	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Very often (80–99%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Increased blood alanine	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Patent foramen ovale	Always

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Feeding difficulties	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Tubulointerstitial nephritis	Always

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 MRPL3 and how often each is seen. Find out more at hpo.jax.org.

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