Traits

Traits linked to EOGT

EGF domain specific O-linked N-acetylglucosamine transferase

The Human Phenotype Ontology links 56 traits to EOGT, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormality of the lower limb	Very often (80–99%)
Abnormality of the upper limb	Very often (80–99%)
Absent hand	Very often (80–99%)
Absent toe	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Absent outermost bone of the toes	Often (30–79%)
Finger syndactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short outermost finger bone	Often (30–79%)
Split hand	Often (30–79%)
Talipes	Often (30–79%)
Absent middle bone of 4th toe	Sometimes (5–29%)
Absent middle bone of the 3rd toe	Sometimes (5–29%)
Short toe	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Very often (80–99%)
Abnormal pulmonary valve morphology	Often (30–79%)
Pulmonary artery atresia	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Arteriovenous malformation	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Absence of part of skin at birth	Always
Absent/small skin	Very often (80–99%)
Sparse hair	Very often (80–99%)
Abnormal toenail development	Often (30–79%)
Underdeveloped toenails	Often (30–79%)
Absent fingernail	Sometimes (5–29%)
Absent/small toenails	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Small fingernail	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Too much cerebrospinal fluid in the brain	Often (30–79%)
Cavity within brain	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Enlarged vein in esophagus	Sometimes (5–29%)
Excessive buildup of connective tissue and scarring of liver at birth	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood leukocyte number	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cross-eyed	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Cranial defect	Very often (80–99%)
Encephalocele	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 EOGT and how often each is seen. Find out more at hpo.jax.org.

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