Traits

Traits linked to MRPL39

mitochondrial ribosomal protein L39

The Human Phenotype Ontology links 27 traits to MRPL39, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Attention deficit	Întotdeauna
Elevated brain lactate level by MRS	Întotdeauna
Abnormal basal ganglia MRI signal intensity	Des (30–79%)
CNS demyelination	Des (30–79%)
Global developmental delay	Des (30–79%)
Lack of feeling, emotion, interest	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Migraine	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Brain swelling	Des (30–79%)
Elevated urinary dicarboxylic acid level	Des (30–79%)
Higher than normal levels of lactate in blood	Des (30–79%)
Increased blood alanine	Des (30–79%)
Ketotic hypoglycemia	Des (30–79%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Întotdeauna
Decreased activity of mitochondrial complex IV	Întotdeauna
Decreased activity of the pyruvate dehydrogenase complex	Des (30–79%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Cardiac failure	Des (30–79%)
Enlarged and thickened heart muscle	Des (30–79%)
Severely reduced left ventricular ejection fraction	Des (30–79%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Gallstones	Des (30–79%)
Vomiting	Des (30–79%)

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Retina degeneration	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Des (30–79%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Apnea	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MRPL39 and how often each is seen. Find out more at hpo.jax.org.

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