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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

TraitHvor ofte det ses
Attention deficitAltid
Elevated brain lactate level by MRSAltid
Abnormal basal ganglia MRI signal intensityOfte (30–79 %)
CNS demyelinationOfte (30–79 %)
Global developmental delayOfte (30–79 %)
Lack of feeling, emotion, interestOfte (30–79 %)
Loss of developmental milestonesOfte (30–79 %)
MigraineOfte (30–79 %)

Laboratory abnormality

TraitHvor ofte det ses
Brain swellingOfte (30–79 %)
Elevated urinary dicarboxylic acid levelOfte (30–79 %)
Higher than normal levels of lactate in bloodOfte (30–79 %)
Increased blood alanineOfte (30–79 %)
Ketotic hypoglycemiaOfte (30–79 %)

Abnormal cellular phenotype

TraitHvor ofte det ses
Decreased activity of mitochondrial complex IAltid
Decreased activity of mitochondrial complex IVAltid
Decreased activity of the pyruvate dehydrogenase complexOfte (30–79 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Cardiac failureOfte (30–79 %)
Enlarged and thickened heart muscleOfte (30–79 %)
Severely reduced left ventricular ejection fractionOfte (30–79 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Feeding difficultiesOfte (30–79 %)
GallstonesOfte (30–79 %)
VomitingOfte (30–79 %)

Abnormality of the eye

TraitHvor ofte det ses
Cross-eyedOfte (30–79 %)
Retina degenerationOfte (30–79 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneOfte (30–79 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
ApneaOfte (30–79 %)

Growth abnormality

TraitHvor ofte det ses
Faltering weightOfte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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