Traits

Traits linked to MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

The Human Phenotype Ontology links 103 traits to MT-ND2, 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
Ataxia	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Focal T2 hyperintense brainstem lesion	Foarte des (80–99%)
Global developmental delay	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%)
Chorea	Des (30–79%)
Disorder of involuntary muscle movements	Des (30–79%)
Dystonia	Des (30–79%)
Epilepsy	Des (30–79%)
Focal T2 hyperintense basal ganglia lesion	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Nerve damage causing decreased feeling and movement	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Abnormal prosody	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Demyelinating peripheral neuropathy	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Postural tremor	Uneori (5–29%)
Segmental peripheral demyelination/remyelination	Uneori (5–29%)
Peripheral nerve disease	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Foarte des (80–99%)
Damaged optic nerve	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Optic disc pallor	Foarte des (80–99%)
Paroxysmal involuntary eye movements	Foarte des (80–99%)
Slow decrease in sharpness of vision	Foarte des (80–99%)
Blind spot located at fixation point	Des (30–79%)
Blurred vision	Des (30–79%)
Centrocecal scotoma	Des (30–79%)
Optic atrophy	Des (30–79%)
Pigmentary retinopathy	Des (30–79%)
Progressive loss of vision	Des (30–79%)
Weakness of muscles controlling eye movement	Des (30–79%)
Abnormal color vision	Uneori (5–29%)
Abnormal electroretinogram	Uneori (5–29%)
Abnormality of visual evoked potentials	Uneori (5–29%)
Blindness	Uneori (5–29%)
Reduced contrast sensitivity	Uneori (5–29%)
Retinal nerve fiber edema	Uneori (5–29%)
Rod-cone dystrophy	Uneori (5–29%)
Leber optic atrophy	Neînregistrat
Visual loss	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormality of Krebs cycle metabolism	Foarte des (80–99%)
Increased circulating pyruvate concentration	Foarte des (80–99%)
Increased CSF lactate	Foarte des (80–99%)
Increased lactate in body	Foarte des (80–99%)
Low blood sugar	Foarte des (80–99%)
High urine lactic acid levels	Des (30–79%)
Higher than normal levels of lactate in blood	Des (30–79%)
Diabetes mellitus	Uneori (5–29%)
Fever	Uneori (5–29%)
Hypothermia	Uneori (5–29%)
Increased blood alanine	Uneori (5–29%)
Decreased circulating citrulline concentration	Rar (1–4%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Mitochondrial myopathy	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Poor head control	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Muscle tissue disease	Uneori (5–29%)
Ragged-red muscle fibers	Rar (1–4%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Enlarged and thickened heart muscle	Foarte des (80–99%)
Retinal telangiectasia	Des (30–79%)
Retinal vascular tortuosity	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
Cardiac conduction abnormality	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Ventricular preexcitation	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Enlarged liver	Foarte des (80–99%)
Vomiting	Foarte des (80–99%)
Episodic vomiting	Des (30–79%)
Feeding difficulties	Uneori (5–29%)
Liver failure	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory function loss	Foarte des (80–99%)
Apnea	Uneori (5–29%)
Breathing difficulty	Uneori (5–29%)
Episodic difficulty breathing	Uneori (5–29%)
Rapid breathing	Uneori (5–29%)

Abnormal cellular phenotype

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

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Proximal tubulopathy	Foarte des (80–99%)
Abnormal renal tubule morphology	Uneori (5–29%)
Multiple glomerular cysts	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Central retinal vessel vascular tortuosity	Neînregistrat

Growth abnormality

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

Abnormality of prenatal development or birth

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

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	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 MT-ND2 and how often each is seen. Find out more at hpo.jax.org.

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