Traits

Traits linked to NDUFAF2

NADH:ubiquinone oxidoreductase complex assembly factor 2

The Human Phenotype Ontology links 50 traits to NDUFAF2, 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
Absent reflexes	Întotdeauna
Ataxia	Întotdeauna
Decreased reflex response	Întotdeauna
Global developmental delay	Întotdeauna
Pauses in breathing while sleeping	Întotdeauna
Wide based walk	Întotdeauna
Encephalopathy	Foarte des (80–99%)
Focal T2 hyperintense brainstem lesion	Foarte des (80–99%)
Lethargy	Foarte des (80–99%)
Leukodystrophy	Foarte des (80–99%)
Leukoencephalopathy	Foarte des (80–99%)
Poor eye contact	Foarte des (80–99%)
Epilepsy	Rar (1–4%)
Lack of coordination of movement	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Horizontal nystagmus	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Optic atrophy	Întotdeauna
Cross-eyed	Foarte des (80–99%)
Damaged optic nerve	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Optic disc pallor	Foarte des (80–99%)
Paroxysmal involuntary eye movements	Foarte des (80–99%)
Blindness	Uneori (5–29%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Rar (1–4%)

Laboratory abnormality

Trait	Cât de frecvent apare
Increased CSF lactate	Întotdeauna
Increased circulating pyruvate concentration	Foarte des (80–99%)
Increased lactate in body	Foarte des (80–99%)
Low blood sugar	Foarte des (80–99%)
Diabetes mellitus	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Poor swallowing	Întotdeauna
Enlarged liver	Foarte des (80–99%)
Vomiting	Foarte des (80–99%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Întotdeauna
Mitochondrial myopathy	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Poor head control	Foarte des (80–99%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory failure	Întotdeauna
Respiratory function loss	Foarte des (80–99%)
Apnea	Neînregistrat
Central hypoventilation	Neînregistrat

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Întotdeauna
Abnormal mitochondria in muscle tissue	Foarte des (80–99%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Fetal distress	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Enlarged and thickened heart muscle	Foarte des (80–99%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Foarte des (80–99%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Proximal tubulopathy	Foarte des (80–99%)

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 NDUFAF2 and how often each is seen. Find out more at hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu