Traits

Traits linked to MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

The Human Phenotype Ontology links 144 traits to MT-ND4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Absent/small cerebral white matter	Very often (80–99%)
Dementia	Very often (80–99%)
Difficulty finding words	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Epilepsy	Very often (80–99%)
Migraine	Very often (80–99%)
Widened cerebral subarachnoid space	Very often (80–99%)
Abnormal gait	Often (30–79%)
Anxiety	Often (30–79%)
Ataxia	Often (30–79%)
Chorea	Often (30–79%)
Depression	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Dystonia	Often (30–79%)
Encephalopathy	Often (30–79%)
Fluctuations in consciousness	Often (30–79%)
Focal T2 hyperintense basal ganglia lesion	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Impaired visuospatial constructive cognition	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Jerking	Often (30–79%)
Memory impairment	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Psychosis	Often (30–79%)
Recurrent paroxysmal headache	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Short attention span	Often (30–79%)
Specific learning disability	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Abnormal central motor function	Sometimes (5–29%)
Abnormal prosody	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Bipolar disorder	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Bulbar signs	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Demyelinating peripheral neuropathy	Sometimes (5–29%)
Distal peripheral sensory neuropathy	Sometimes (5–29%)
Disturbances of consciousness	Sometimes (5–29%)
Elevated brain lactate level by MRS	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Mixed demyelinating and axonal polyneuropathy	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)
Personality changes	Sometimes (5–29%)
Postural tremor	Sometimes (5–29%)
Psychotic mentation	Sometimes (5–29%)
Segmental peripheral demyelination/remyelination	Sometimes (5–29%)
Stuttering	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Peripheral nerve disease	Not recorded

Abnormality of the eye

Trait	How often it is seen
Slow decrease in sharpness of vision	Very often (80–99%)
Blind spot located at fixation point	Often (30–79%)
Blurred vision	Often (30–79%)
Centrocecal scotoma	Often (30–79%)
Damaged optic nerve	Often (30–79%)
Optic atrophy	Often (30–79%)
Pigmentary retinopathy	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Visual loss	Often (30–79%)
Weakness of muscles controlling eye movement	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Abnormal electroretinogram	Sometimes (5–29%)
Abnormality of visual evoked potentials	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Progressive external ophthalmoplegia	Sometimes (5–29%)
Reduced contrast sensitivity	Sometimes (5–29%)
Retinal nerve fiber edema	Sometimes (5–29%)
Rod-cone dystrophy	Sometimes (5–29%)
Leber optic atrophy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormality of Krebs cycle metabolism	Very often (80–99%)
Higher than normal levels of lactate in blood	Very often (80–99%)
Increased CSF lactate	Very often (80–99%)
Increased lactate in body	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
High urine lactic acid levels	Often (30–79%)
Increased CSF protein concentration	Often (30–79%)
Fever	Sometimes (5–29%)
High urine protein levels	Sometimes (5–29%)
Hypothermia	Sometimes (5–29%)
Increased blood alanine	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Type 1 diabetes	Sometimes (5–29%)
Decreased circulating citrulline concentration	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Stroke-like episode	Very often (80–99%)
Retinal telangiectasia	Often (30–79%)
Retinal vascular tortuosity	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
Cardiac conduction abnormality	Sometimes (5–29%)
Concentric hypertrophic cardiomyopathy	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Redness of skin or mucous membrane	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)
Ventricular preexcitation	Sometimes (5–29%)
Wolff-Parkinson-White syndrome	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Often (30–79%)
Vomiting	Often (30–79%)
Constipation	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Gastrointestinal dysmotility	Sometimes (5–29%)
Intestinal pseudo-obstruction	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Recurring pancreas inflammation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Very often (80–99%)
Ragged-red muscle fibers	Very often (80–99%)
Basal ganglia calcification	Often (30–79%)
Decreased muscle tone in infant	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Mitochondrial myopathy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal renal tubule morphology	Sometimes (5–29%)
Focal segmental glomerulosclerosis	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Multiple glomerular cysts	Sometimes (5–29%)
Proximal tubulopathy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Breathing difficulty	Sometimes (5–29%)
Episodic difficulty breathing	Sometimes (5–29%)
Rapid breathing	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased parathyroid hormone secretion	Rarely (1–4%)
Hypogonadotropic hypogonadism	Rarely (1–4%)
Underactive thyroid	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal mitochondria in muscle tissue	Very often (80–99%)
Mitochondrial respiratory chain defects	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Blotchy loss of skin color	Sometimes (5–29%)
Excessive hair growth	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Central retinal vessel vascular tortuosity	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MT-ND4 and how often each is seen. Find out more at hpo.jax.org.

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