Traits

Traits linked to MRPL12

mitochondrial ribosomal protein L12

The Human Phenotype Ontology links 19 traits to MRPL12, 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
Abnormal cerebral white matter morphology	Always
Absent speech development	Always
Ataxia	Always
Epilepsy	Always
Global developmental delay	Always
Tremor	Always

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
High palate	Always
Round face	Always
Short neck	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex IV	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Muscle weakness	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Heart stops beating	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the eye

Trait	How often it is seen
Horizontal nystagmus	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always

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 MRPL12 and how often each is seen. Find out more at hpo.jax.org.

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