Traits

Traits linked to MRPL44

mitochondrial ribosomal protein L44

The Human Phenotype Ontology links 6 traits to MRPL44, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Microvesicular hepatic steatosis	Always
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	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 MRPL44 and how often each is seen. Find out more at hpo.jax.org.

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