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Traits

Traits linked to MICOS13

mitochondrial contact site and cristae organizing system subunit 13

The Human Phenotype Ontology links 43 traits to MICOS13, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Degeneration of cerebellumAlati
Global developmental delayAlati
Increased reflexesAlati
Persistent head lagAlati
Poor eye contactAlati
Small cerebellumAlati
Worsening neurological symptomsAlati
ChoreoathetosisVäga sageli (80–99%)
AtaxiaSageli (30–79%)
Difficulty articulating speechSageli (30–79%)
Intellectual disabilitySageli (30–79%)
Myoclonic seizureSageli (30–79%)
Abnormal gaitMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
3-Methylglutaconic aciduriaAlati
Elevated gamma-glutamyltransferase levelAlati
High liver enzymesAlati
Higher than normal levels of lactate in bloodAlati
HypothermiaAlati
Increased blood alanineAlati
Increased lactate in bodyAlati
Low albuminAlati
Low blood sugarAlati
Macrovesicular hepatic steatosisAlati

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle toneAlati
Poor head controlAlati
Generalized decreased muscle toneSageli (30–79%)
Involuntary muscle stiffness, contraction, or spasmSageli (30–79%)
Low muscle tone in trunkSageli (30–79%)
Spastic paraparesisSageli (30–79%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Chorioretinal hyperpigmentationAlati
Optic atrophyAlati
Visual impairmentAlati
Involuntary, rapid, rhythmic eye movementsSageli (30–79%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Bile duct proliferationAlati
Decreased liver functionAlati
Feeding difficultiesAlati

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Respiratory failureAlati
Respiratory function lossAlati

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Prolonged prothrombin timeAlati

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Development of small head that was not present at birthSageli (30–79%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Enlarged and thickened heart muscleSageli (30–79%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentSageli (30–79%)

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 MICOS13 and how often each is seen. Find out more at hpo.jax.org.

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