Traits

Traits linked to COG6

component of oligomeric golgi complex 6

The Human Phenotype Ontology links 61 traits to COG6, by body system: features seen in people with one of the gene's rare conditions.

COG6

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Delayed social development	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Abnormal cortical gyration	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Broad nasal tip	Often (30–79%)
Dental cavities	Often (30–79%)
Full lips	Often (30–79%)
Limited hair on end of eyebrow	Often (30–79%)
Thin dental enamel	Often (30–79%)
Development of small head that was not present at birth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Mild microcephaly	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High liver enzymes	Always
Type II transferrin isoform profile	Very often (80–99%)
Elevated alkaline phosphatase	Often (30–79%)
Elevated blood creatine phosphokinase	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Episodic fever	Often (30–79%)
Peau d'orange	Sometimes (5–29%)
Abnormal isoelectric focusing of serum transferrin	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Slowed or blocked flow of bile from liver	Often (30–79%)
Enlarged vein in esophagus	Sometimes (5–29%)
Inflammation of the large intestine	Sometimes (5–29%)
Liver inflammation	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Increased spleen size	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Always
Bleeding tendency	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Sometimes (5–29%)
Hyperechogenic kidneys	Sometimes (5–29%)
Proximal tubulopathy	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Always
Recurrent respiratory infections	Often (30–79%)
Decreased specific anti-polysaccharide antibody concentration	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Always
Hyperkeratosis	Often (30–79%)
Dry skin	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Prenatal growth deficiency	Not recorded

Abnormality of limbs

Trait	How often it is seen
Thickening of the outer layer of the skin of the palms and soles	Often (30–79%)
Postaxial polydactyly	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Impaired T cell function	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	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 COG6 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test