Traits

Traits linked to MRPS16

mitochondrial ribosomal protein S16

The Human Phenotype Ontology links 19 traits to MRPS16, by body system: features seen in people with one of the gene's rare conditions.

Abnormal cellular phenotype

Trait	How often it is seen
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

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Always
High liver enzymes	Always
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Always
Decreased muscle movement	Always
Lethargy	Always

Abnormality of head or neck

Trait	How often it is seen
Redundant neck skin	Always

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Mild fetal ventriculomegaly	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Always

Growth abnormality

Trait	How often it is seen
Small for gestational age	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 MRPS16 and how often each is seen. Find out more at hpo.jax.org.

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