Traits

Traits linked to MRPS34

mitochondrial ribosomal protein S34

The Human Phenotype Ontology links 31 traits to MRPS34, 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
Global developmental delay	Very often (80–99%)
Absent speech development	Often (30–79%)
Choreoathetosis	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Tremor	Often (30–79%)
Degeneration of cerebellum	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Elevated brain lactate level by MRS	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Inability to walk	Not recorded
Increased reflexes	Not recorded
Loss of developmental milestones	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Poor swallowing	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Joint contracture	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Low muscle tone	Not recorded

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always
Increased CSF lactate	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Coarse facial features	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Horseshoe kidney	Sometimes (5–29%)

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 MRPS34 and how often each is seen. Find out more at hpo.jax.org.

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