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

Trait	How often it is seen
Degeneration of cerebellum	Always
Global developmental delay	Always
Increased reflexes	Always
Persistent head lag	Always
Poor eye contact	Always
Small cerebellum	Always
Worsening neurological symptoms	Always
Choreoathetosis	Very often (80–99%)
Ataxia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Intellectual disability	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Abnormal gait	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
3-Methylglutaconic aciduria	Always
Elevated gamma-glutamyltransferase level	Always
High liver enzymes	Always
Higher than normal levels of lactate in blood	Always
Hypothermia	Always
Increased blood alanine	Always
Increased lactate in body	Always
Low albumin	Always
Low blood sugar	Always
Macrovesicular hepatic steatosis	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Poor head control	Always
Generalized decreased muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Spastic paraparesis	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Chorioretinal hyperpigmentation	Always
Optic atrophy	Always
Visual impairment	Always
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Bile duct proliferation	Always
Decreased liver function	Always
Feeding difficulties	Always

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Respiratory function loss	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Prolonged prothrombin time	Always

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Often (30–79%)

Abnormality of the ear

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

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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

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