Traits

Traits linked to MGAT2

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

The Human Phenotype Ontology links 97 traits to MGAT2, by body system: features seen in people with one of the gene's rare conditions.

MGAT2

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Beaked nose	Often (30–79%)
Big lower jaw	Often (30–79%)
Decreased volume of lip	Often (30–79%)
Gum enlargement	Often (30–79%)
Increased size of tooth	Often (30–79%)
Long philtrum	Often (30–79%)
Progressively abnormally small cranium	Often (30–79%)
Short neck	Often (30–79%)
Abnormality of the scalp	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Open mouth	Sometimes (5–29%)
Recurrent upper and lower respiratory tract infections	Sometimes (5–29%)
Abnormally small head	Not recorded
Big calvaria	Not recorded
Broad head shape	Not recorded
Drooping lower lip	Not recorded
Gap between teeth	Not recorded
Midfrontal capillary hemangioma	Not recorded
Prominent nasal bridge	Not recorded
Protruding tongue	Not recorded
Receding chin	Not recorded
Thick eyebrow	Not recorded
Wide mouth	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, severe	Always
Severe global developmental delay	Always
Global developmental delay	Very often (80–99%)
Repetitive movements	Very often (80–99%)
Epilepsy	Often (30–79%)
Stereotypical hand wringing	Often (30–79%)
Brain degeneration	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Aggressive behavior	Not recorded
Peripheral neuropathy	Not recorded
Self-mutilation	Not recorded
Small cerebellum	Not recorded
Unsteady walk	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)
Hunched back	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Abnormality of the rib cage	Not recorded
Slender long bone	Not recorded
Spasticity and rigidity of muscles	Not recorded
Thoracolumbar kyphoscoliosis	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of the common coagulation pathway	Sometimes (5–29%)
Bleeding tendency	Sometimes (5–29%)
Impaired platelet aggregation	Sometimes (5–29%)
Reduced factor XI activity	Sometimes (5–29%)
Reduced antithrombin III activity	Not recorded
Reduced factor IX activity	Not recorded
Reduced factor XII activity	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Always
Low-set ears	Often (30–79%)
Abnormal earlobe	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Prominent antihelix	Sometimes (5–29%)
Sensorineural hearing impairment	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Reflex asystolic syncope	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)
Decreased circulating IgG concentration	Sometimes (5–29%)
Decreased mitogen-induced T-cell proliferation	Sometimes (5–29%)
Impaired phytohemagglutinin-induced T lymphocyte transformation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Sometimes (5–29%)
Attachment of thumb close to wrist	Not recorded
Coxa valga	Not recorded
Dropped arches	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)
Inverted nipples	Sometimes (5–29%)
Small nipples	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay as children	Not recorded
Short stature	Not recorded

Laboratory abnormality

Trait	How often it is seen
Type II transferrin isoform profile	Always
Reduced level of N-acetylglucosaminyltransferase II	Very often (80–99%)
Hydrops fetalis	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Sometimes (5–29%)
Sparse hair	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the endocrine system	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Combined immunodeficiency	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	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 MGAT2 and how often each is seen. Find out more at hpo.jax.org.

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