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Traits

Traits linked to COX15

cytochrome c oxidase assembly factor COX15

The Human Phenotype Ontology links 54 traits to COX15, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
AtaxiaAlati
Bilateral basal ganglia lesionsAlati
Brisk reflexesAlati
Instability or lack of coordination of central trunk musclesAlati
Loss of developmental milestonesAlati
Motor regressionAlati
EncephalopathyPole registreeritud
EpilepsyPole registreeritud
GliosisPole registreeritud
Global developmental delayPole registreeritud
Intellectual disabilityPole registreeritud
LeukoencephalopathyPole registreeritud
Motor delayPole registreeritud

Laboratory abnormality

TraitKui sageli seda täheldatakse
Increased lactate in bodyAlati
Abnormal urinary amino-acid findingsPole registreeritud
Fatty infiltration of liverPole registreeritud
Glucose in urinePole registreeritud
High urine phosphate levelsPole registreeritud
High urine protein levelsPole registreeritud
Higher than normal levels of lactate in bloodPole registreeritud
Increased CSF lactatePole registreeritud
Increased hepatocellular lipid dropletsPole registreeritud
Increased intramyocellular lipid dropletsPole registreeritud
Renal Fanconi syndromePole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Horizontal nystagmusAlati
Noninflammatory retina diseaseAlati
Optic atrophyAlati
Weakness of muscles controlling eye movementAlati
Drooping upper eyelidPole registreeritud
Pigmentary retinopathyPole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Cytochrome C oxidase-negative muscle fibersAlati
Generalized decreased muscle toneAlati
Low muscle toneAlati
Lower limb spasticityAlati
Decreased lung function due to weak breathing musclesPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Midface retrusionAlati
Abnormally small headPole registreeritud
High palatePole registreeritud
Weakness of facial musculaturePole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Bloody diarrheaAlati
Feeding difficultiesAlati
Decreased liver functionPole registreeritud
Enlarged liverPole registreeritud

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Respiratory failureAlati
Breathing difficultiesPole registreeritud
Exertional breathlessnessPole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Enlarged and thickened heart muscleAlati
Disease of the heart musclePole registreeritud

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Low number of red blood cells or hemoglobinPole registreeritud

Abnormality of prenatal development or birth

TraitKui sageli seda täheldatakse
Less than 10 fetal movements in 12 hoursPole registreeritud

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentPole registreeritud

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Abnormal function of filtrating structures in kidneyPole registreeritud

Constitutional symptom

TraitKui sageli seda täheldatakse
Decreased ability to exercisePole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightAlati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to COX15 and how often each is seen. Find out more at hpo.jax.org.

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