Traits

Traits linked to COG8

component of oligomeric golgi complex 8

The Human Phenotype Ontology links 69 traits to COG8, 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
Abnormal brain lactate level by MRS	Always
Absent speech development	Always
Agenesis of cerebellar vermis	Always
Agenesis of corpus callosum	Always
Ataxia	Always
Atrophy/Degeneration affecting the brainstem	Always
Chronic axonal neuropathy	Always
Degeneration of cerebellum	Always
Global developmental delay	Always
Intellectual disability	Always
Jerking	Always
Lack of coordination of movement	Always
Lethargy	Always
Repeated seizures without recovery between them	Always
Action myoclonus	Often (30–79%)
Acute encephalopathy	Often (30–79%)
Epilepsy	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Poor speech	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Dandy-Walker malformation	Always
Development of small head that was not present at birth	Always
Eye folds	Often (30–79%)
Short neck	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Progressively abnormally small cranium	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Thickened skin folds of neck	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bilateral coxa valga	Always
Curvature of 3rd toe	Always
Curvature of 4th toe	Always
Absent ankle reflexes	Often (30–79%)
Claw hand deformity	Often (30–79%)
Coxa valga	Often (30–79%)
Curvature of finger	Often (30–79%)
Ankle flexion contracture	Sometimes (5–29%)
Hand clenching	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated serum transaminases during infections	Always
High liver enzymes	Always
Type II transferrin isoform profile	Always
Food intolerance	Often (30–79%)
Low blood sugar	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Always
Low muscle tone	Always
Poor head control	Always
Muscle degeneration	Often (30–79%)
Permanent flexion of the finger or toe	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Reduced protein S activity	Always
Spontaneous hematomas	Often (30–79%)
Prolonged prothrombin time	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Oculomotor apraxia	Always
Alternating cross eyes	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Interface hepatitis	Always
Protein-losing enteropathy	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	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 COG8 and how often each is seen. Find out more at hpo.jax.org.

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