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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

TraitHvor ofte den forekommer
Degeneration of cerebellumAlltid
Global developmental delayAlltid
Increased reflexesAlltid
Persistent head lagAlltid
Poor eye contactAlltid
Small cerebellumAlltid
Worsening neurological symptomsAlltid
ChoreoathetosisSvært ofte (80–99 %)
AtaxiaOfte (30–79 %)
Difficulty articulating speechOfte (30–79 %)
Intellectual disabilityOfte (30–79 %)
Myoclonic seizureOfte (30–79 %)
Abnormal gaitNoen ganger (5–29 %)

Laboratory abnormality

TraitHvor ofte den forekommer
3-Methylglutaconic aciduriaAlltid
Elevated gamma-glutamyltransferase levelAlltid
High liver enzymesAlltid
Higher than normal levels of lactate in bloodAlltid
HypothermiaAlltid
Increased blood alanineAlltid
Increased lactate in bodyAlltid
Low albuminAlltid
Low blood sugarAlltid
Macrovesicular hepatic steatosisAlltid

Abnormality of the musculoskeletal system

TraitHvor ofte den forekommer
Low muscle toneAlltid
Poor head controlAlltid
Generalized decreased muscle toneOfte (30–79 %)
Involuntary muscle stiffness, contraction, or spasmOfte (30–79 %)
Low muscle tone in trunkOfte (30–79 %)
Spastic paraparesisOfte (30–79 %)

Abnormality of the eye

TraitHvor ofte den forekommer
Chorioretinal hyperpigmentationAlltid
Optic atrophyAlltid
Visual impairmentAlltid
Involuntary, rapid, rhythmic eye movementsOfte (30–79 %)

Abnormality of the digestive system

TraitHvor ofte den forekommer
Bile duct proliferationAlltid
Decreased liver functionAlltid
Feeding difficultiesAlltid

Abnormality of the respiratory system

TraitHvor ofte den forekommer
Respiratory failureAlltid
Respiratory function lossAlltid

Abnormality of blood and blood-forming tissues

TraitHvor ofte den forekommer
Prolonged prothrombin timeAlltid

Abnormality of head or neck

TraitHvor ofte den forekommer
Development of small head that was not present at birthOfte (30–79 %)

Abnormality of the cardiovascular system

TraitHvor ofte den forekommer
Enlarged and thickened heart muscleOfte (30–79 %)

Abnormality of the ear

TraitHvor ofte den forekommer
Sensorineural hearing impairmentOfte (30–79 %)

Growth abnormality

TraitHvor ofte den forekommer
Faltering weightAlltid

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

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