Traits

Traits linked to COG1

component of oligomeric golgi complex 1

The Human Phenotype Ontology links 89 traits to COG1, by body system: features seen in people with one of the gene's rare conditions.

COG1

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Little lower jaw	Always
Short neck	Always
Upward slanting of the opening between the eyelids	Always
Abnormal facial shape	Often (30–79%)
Cleft palate	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Enlarged cisterna magna	Often (30–79%)
High palate	Often (30–79%)
Long philtrum	Often (30–79%)
Narrow mouth	Often (30–79%)
Pierre-Robin sequence	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Small face	Often (30–79%)
Smooth philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Broad neck	Sometimes (5–29%)
Progressively abnormally small cranium	Sometimes (5–29%)
Midface retrusion	Not recorded
Nasal tip, upturned	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Rib fusion	Always
Butterfly vertebrae	Often (30–79%)
Irregularity of vertebral bodies	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Osteopenia	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Posterior rib gap	Often (30–79%)
Short long bone	Often (30–79%)
Squared iliac bones	Often (30–79%)
Thoracic scoliosis	Often (30–79%)
Vertebral segmentation defect	Often (30–79%)
Generalized decreased muscle tone	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Degeneration of cerebellum	Always
Degeneration of cerebrum	Always
Global developmental delay	Always
IQ between 34 and 49	Always
Brain degeneration	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Cerebellar dysplasia	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Temporal cortical atrophy	Sometimes (5–29%)
Delayed speech and language development	Not recorded

Abnormality of limbs

Trait	How often it is seen
Small hand	Always
Broad femoral neck	Often (30–79%)
Club feet	Often (30–79%)
Disproportionately short upper portion of limb	Often (30–79%)
Finger bends toward pinky	Often (30–79%)
Shallow acetabular fossae	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Small innermost thighbone end part	Often (30–79%)
Coxa valga	Sometimes (5–29%)
Flat acetabular roof	Sometimes (5–29%)
Short foot	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Cholesteatoma	Often (30–79%)
Conductive deafness	Often (30–79%)
Narrow ear canal	Often (30–79%)
Small ears	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hemolytic-uremic syndrome	Often (30–79%)
Hydronephrosis	Often (30–79%)
Hypospadias	Often (30–79%)
Renal failure	Often (30–79%)
Undescended testes	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Always
Faltering weight	Often (30–79%)
Growth delay as children	Often (30–79%)
Short stature	Often (30–79%)
Prenatal growth deficiency	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular hypertrophy	Always
Atrial septal dilatation	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Enlarged liver and spleen	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal macular morphology	Often (30–79%)
Bulging eye	Often (30–79%)
Esodeviation	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Giant platelets	Often (30–79%)
Low platelet count	Often (30–79%)
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Not recorded

Laboratory abnormality

Trait	How often it is seen
Type II transferrin isoform profile	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 COG1 and how often each is seen. Find out more at hpo.jax.org.

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