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Traits

Traits linked to NDUFAF3

NADH:ubiquinone oxidoreductase complex assembly factor 3

The Human Phenotype Ontology links 46 traits to NDUFAF3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHvor ofte det ses
AtaxiaMeget ofte (80–99 %)
EncephalopathyMeget ofte (80–99 %)
Focal T2 hyperintense brainstem lesionMeget ofte (80–99 %)
Global developmental delayMeget ofte (80–99 %)
LethargyMeget ofte (80–99 %)
LeukodystrophyMeget ofte (80–99 %)
LeukoencephalopathyMeget ofte (80–99 %)
Poor eye contactMeget ofte (80–99 %)
Increased reflexesNogle gange (5–29 %)
JerkingNogle gange (5–29 %)
Myoclonic seizureNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Optic disc pallorAltid
Cross-eyedMeget ofte (80–99 %)
Damaged optic nerveMeget ofte (80–99 %)
Drooping upper eyelidMeget ofte (80–99 %)
Involuntary, rapid, rhythmic eye movementsMeget ofte (80–99 %)
Paroxysmal involuntary eye movementsMeget ofte (80–99 %)
BlindnessNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneMeget ofte (80–99 %)
Mitochondrial myopathyMeget ofte (80–99 %)
Muscle weaknessMeget ofte (80–99 %)
Poor head controlMeget ofte (80–99 %)
Spasticity and rigidity of musclesOfte (30–79 %)

Laboratory abnormality

TraitHvor ofte det ses
Increased CSF lactateAltid
Increased circulating pyruvate concentrationMeget ofte (80–99 %)
Increased lactate in bodyMeget ofte (80–99 %)
Low blood sugarMeget ofte (80–99 %)
Diabetes mellitusNogle gange (5–29 %)

Abnormality of head or neck

TraitHvor ofte det ses
Abnormally small headNogle gange (5–29 %)
Big calvariaNogle gange (5–29 %)
Wider-than-typical soft spot of skullNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Enlarged liverMeget ofte (80–99 %)
VomitingMeget ofte (80–99 %)
Feeding difficultiesNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Proximal tubulopathyMeget ofte (80–99 %)
HydronephrosisNogle gange (5–29 %)
HydroureterNogle gange (5–29 %)

Abnormal cellular phenotype

TraitHvor ofte det ses
Decreased activity of mitochondrial complex IAltid
Abnormal mitochondria in muscle tissueMeget ofte (80–99 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Respiratory function lossMeget ofte (80–99 %)
Respiratory failureOfte (30–79 %)

Growth abnormality

TraitHvor ofte det ses
Faltering weightMeget ofte (80–99 %)
Prenatal growth deficiencyMeget ofte (80–99 %)

Abnormality of prenatal development or birth

TraitHvor ofte det ses
Fetal distressNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Enlarged and thickened heart muscleMeget ofte (80–99 %)

Abnormality of the ear

TraitHvor ofte det ses
Sensorineural hearing impairmentMeget ofte (80–99 %)

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 NDUFAF3 and how often each is seen. Find out more at hpo.jax.org.

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