Traits

Traits linked to MRPS14

mitochondrial ribosomal protein S14

The Human Phenotype Ontology links 21 traits to MRPS14, by body system: features seen in people with one of the gene's rare conditions.

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal mitochondrial morphology	Always
Decreased activity of mitochondrial ATP synthase complex	Always
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex III	Always
Decreased activity of mitochondrial complex IV	Always

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed speech and language development	Always
Global developmental delay	Always

Laboratory abnormality

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

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Midface retrusion	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Wolff-Parkinson-White syndrome	Always

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 MRPS14 and how often each is seen. Find out more at hpo.jax.org.

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