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	Hvor ofte den forekommer
Attention deficit	Alltid
Elevated brain lactate level by MRS	Alltid
Abnormal basal ganglia MRI signal intensity	Ofte (30–79 %)
CNS demyelination	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Lack of feeling, emotion, interest	Ofte (30–79 %)
Loss of developmental milestones	Ofte (30–79 %)
Migraine	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Brain swelling	Ofte (30–79 %)
Elevated urinary dicarboxylic acid level	Ofte (30–79 %)
Higher than normal levels of lactate in blood	Ofte (30–79 %)
Increased blood alanine	Ofte (30–79 %)
Ketotic hypoglycemia	Ofte (30–79 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Decreased activity of mitochondrial complex I	Alltid
Decreased activity of mitochondrial complex IV	Alltid
Decreased activity of the pyruvate dehydrogenase complex	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Cardiac failure	Ofte (30–79 %)
Enlarged and thickened heart muscle	Ofte (30–79 %)
Severely reduced left ventricular ejection fraction	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Gallstones	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Cross-eyed	Ofte (30–79 %)
Retina degeneration	Ofte (30–79 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Apnea	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test