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	Hvor ofte den forekommer
Ataxia	Svært ofte (80–99 %)
Encephalopathy	Svært ofte (80–99 %)
Focal T2 hyperintense brainstem lesion	Svært ofte (80–99 %)
Global developmental delay	Svært ofte (80–99 %)
Lethargy	Svært ofte (80–99 %)
Leukodystrophy	Svært ofte (80–99 %)
Leukoencephalopathy	Svært ofte (80–99 %)
Poor eye contact	Svært ofte (80–99 %)
Chorea	Ofte (30–79 %)
Disorder of involuntary muscle movements	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Focal T2 hyperintense basal ganglia lesion	Ofte (30–79 %)
Generalized myoclonic seizure	Ofte (30–79 %)
Grand mal seizures	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Nerve damage causing decreased feeling and movement	Ofte (30–79 %)
Severe global developmental delay	Ofte (30–79 %)
Abnormal prosody	Noen ganger (5–29 %)
Bulbar signs	Noen ganger (5–29 %)
Decreased reflex response	Noen ganger (5–29 %)
Demyelinating peripheral neuropathy	Noen ganger (5–29 %)
Increased reflexes	Noen ganger (5–29 %)
Infantile spasms	Noen ganger (5–29 %)
Loss of developmental milestones	Noen ganger (5–29 %)
Peripheral neuropathy	Noen ganger (5–29 %)
Postural tremor	Noen ganger (5–29 %)
Segmental peripheral demyelination/remyelination	Noen ganger (5–29 %)
Peripheral nerve disease	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Cross-eyed	Svært ofte (80–99 %)
Damaged optic nerve	Svært ofte (80–99 %)
Drooping upper eyelid	Svært ofte (80–99 %)
Involuntary, rapid, rhythmic eye movements	Svært ofte (80–99 %)
Optic disc pallor	Svært ofte (80–99 %)
Paroxysmal involuntary eye movements	Svært ofte (80–99 %)
Slow decrease in sharpness of vision	Svært ofte (80–99 %)
Blind spot located at fixation point	Ofte (30–79 %)
Blurred vision	Ofte (30–79 %)
Centrocecal scotoma	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Pigmentary retinopathy	Ofte (30–79 %)
Progressive loss of vision	Ofte (30–79 %)
Weakness of muscles controlling eye movement	Ofte (30–79 %)
Abnormal color vision	Noen ganger (5–29 %)
Abnormal electroretinogram	Noen ganger (5–29 %)
Abnormality of visual evoked potentials	Noen ganger (5–29 %)
Blindness	Noen ganger (5–29 %)
Reduced contrast sensitivity	Noen ganger (5–29 %)
Retinal nerve fiber edema	Noen ganger (5–29 %)
Rod-cone dystrophy	Noen ganger (5–29 %)
Leber optic atrophy	Ikke registrert
Visual loss	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormality of Krebs cycle metabolism	Svært ofte (80–99 %)
Increased circulating pyruvate concentration	Svært ofte (80–99 %)
Increased CSF lactate	Svært ofte (80–99 %)
Increased lactate in body	Svært ofte (80–99 %)
Low blood sugar	Svært ofte (80–99 %)
High urine lactic acid levels	Ofte (30–79 %)
Higher than normal levels of lactate in blood	Ofte (30–79 %)
Diabetes mellitus	Noen ganger (5–29 %)
Fever	Noen ganger (5–29 %)
Hypothermia	Noen ganger (5–29 %)
Increased blood alanine	Noen ganger (5–29 %)
Decreased circulating citrulline concentration	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Svært ofte (80–99 %)
Mitochondrial myopathy	Svært ofte (80–99 %)
Muscle weakness	Svært ofte (80–99 %)
Poor head control	Svært ofte (80–99 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Muscle tissue disease	Noen ganger (5–29 %)
Ragged-red muscle fibers	Sjelden (1–4%)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Enlarged and thickened heart muscle	Svært ofte (80–99 %)
Retinal telangiectasia	Ofte (30–79 %)
Retinal vascular tortuosity	Ofte (30–79 %)
Abnormal heart rate	Noen ganger (5–29 %)
Cardiac conduction abnormality	Noen ganger (5–29 %)
Stretched and thinned heart muscle	Noen ganger (5–29 %)
Ventricular preexcitation	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Enlarged liver	Svært ofte (80–99 %)
Vomiting	Svært ofte (80–99 %)
Episodic vomiting	Ofte (30–79 %)
Feeding difficulties	Noen ganger (5–29 %)
Liver failure	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Respiratory function loss	Svært ofte (80–99 %)
Apnea	Noen ganger (5–29 %)
Breathing difficulty	Noen ganger (5–29 %)
Episodic difficulty breathing	Noen ganger (5–29 %)
Rapid breathing	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Decreased activity of mitochondrial complex I	Alltid
Abnormal mitochondria in muscle tissue	Svært ofte (80–99 %)
Mitochondrial respiratory chain defects	Svært ofte (80–99 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Proximal tubulopathy	Svært ofte (80–99 %)
Abnormal renal tubule morphology	Noen ganger (5–29 %)
Multiple glomerular cysts	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Noen ganger (5–29 %)
Central retinal vessel vascular tortuosity	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Svært ofte (80–99 %)
Prenatal growth deficiency	Svært ofte (80–99 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Fetal distress	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Svært ofte (80–99 %)

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 MT-ND2 and how often each is seen. Find out more at hpo.jax.org.

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