Traits

Traits linked to COG7

component of oligomeric golgi complex 7

The Human Phenotype Ontology links 70 traits to COG7, by body system: features seen in people with one of the gene's rare conditions.

COG7

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Narrow forehead	Always
Narrow mouth	Always
Progressively abnormally small cranium	Always
Receding chin	Always
Short neck	Always
Abnormal facial shape	Often (30–79%)
Low frontal hairline	Often (30–79%)
Small head present at birth	Often (30–79%)
Flat forehead	Not recorded
Full lips	Not recorded
Protruding tongue	Not recorded
Short nose	Not recorded
Short opening between the eyelids	Not recorded
Smooth philtrum	Not recorded
Upward slanting of the opening between the eyelids	Not recorded
Wide nose	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Degeneration of cerebrum	Always
Underdevelopment of part of brain called corpus callosum	Always
Brain degeneration	Very often (80–99%)
Epilepsy	Very often (80–99%)
Absent reflexes	Often (30–79%)
Decreased reflex response	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Subcortical cerebral atrophy	Sometimes (5–29%)
Delayed myelination	Not recorded
Profound global developmental delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated circulating aspartate aminotransferase concentration	Always
Type II transferrin isoform profile	Always
Episodic fever	Very often (80–99%)
High liver enzymes	Very often (80–99%)
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Low blood sugar	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Abnormality of the heart	Often (30–79%)
Cardiac failure	Often (30–79%)
Perimembranous ventricular septal defect	Often (30–79%)
Secundum atrial septal defect	Often (30–79%)
Enlarged liver and spleen	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Jaundice	Always
Feeding difficulties	Very often (80–99%)
Diarrhea	Often (30–79%)
Acid reflux	Not recorded
Decreased liver function	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay as children	Very often (80–99%)
Small for gestational age	Often (30–79%)
Growth delay	Not recorded
Prenatal growth deficiency	Not recorded
Short stature	Not recorded

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Always
Overlapping fingers	Always
Abnormalities of the fingers	Often (30–79%)
Long fingers	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Often (30–79%)
Hydronephrosis	Often (30–79%)
Lack of bladder control due to nervous system injury	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Always
Muscle degeneration	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive wrinkled skin	Always
Excessive hair growth	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal asphyxia	Always
Respiratory function loss	Not recorded

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Very often (80–99%)

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 COG7 and how often each is seen. Find out more at hpo.jax.org.

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