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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

TraitHvor ofte det ses
Abnormality of the lower limbMeget ofte (80–99 %)
Abnormality of the upper limbMeget ofte (80–99 %)
Absent handMeget ofte (80–99 %)
Absent toeMeget ofte (80–99 %)
Abnormal shape of long bones of handOfte (30–79 %)
Absent outermost bone of the toesOfte (30–79 %)
Finger syndactylyOfte (30–79 %)
Short fingers or toesOfte (30–79 %)
Short outermost finger boneOfte (30–79 %)
Split handOfte (30–79 %)
TalipesOfte (30–79 %)
Absent middle bone of 4th toeNogle gange (5–29 %)
Absent middle bone of the 3rd toeNogle gange (5–29 %)
Short toeNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Cutis marmorataMeget ofte (80–99 %)
Abnormal pulmonary valve morphologyOfte (30–79 %)
Pulmonary artery atresiaOfte (30–79 %)
Tetralogy of FallotOfte (30–79 %)
An opening in the wall separating the top two chambers of the heartNogle gange (5–29 %)
Arteriovenous malformationNogle gange (5–29 %)
Hole in heart wall separating two lower heart chambersNogle gange (5–29 %)
Increased blood pressure in blood vessels of lungsNogle gange (5–29 %)
Patent ductus arteriosusNogle gange (5–29 %)
Portal hypertensionNogle gange (5–29 %)

Abnormality of the integument

TraitHvor ofte det ses
Absence of part of skin at birthAltid
Absent/small skinMeget ofte (80–99 %)
Sparse hairMeget ofte (80–99 %)
Abnormal toenail developmentOfte (30–79 %)
Underdeveloped toenailsOfte (30–79 %)
Absent fingernailNogle gange (5–29 %)
Absent/small toenailsNogle gange (5–29 %)
Hair lossNogle gange (5–29 %)
Small fingernailNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Too much cerebrospinal fluid in the brainOfte (30–79 %)
Cavity within brainNogle gange (5–29 %)
EEG abnormalityNogle gange (5–29 %)
EpilepsyNogle gange (5–29 %)
Intellectual disabilityNogle gange (5–29 %)
Periventricular leukomalaciaNogle gange (5–29 %)
Weakness of one side of bodyNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Umbilical herniaOfte (30–79 %)
Accumulation of fluid in the abdomenNogle gange (5–29 %)
Enlarged vein in esophagusNogle gange (5–29 %)
Excessive buildup of connective tissue and scarring of liver at birthNogle gange (5–29 %)
Scar tissue replaces healthy tissue in the liverNogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Decreased blood leukocyte numberNogle gange (5–29 %)
Gastrointestinal bleedingNogle gange (5–29 %)
Low platelet countNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Abnormally small eyeballOfte (30–79 %)
Clouding of the lens of the eyeOfte (30–79 %)
Cross-eyedOfte (30–79 %)

Abnormality of head or neck

TraitHvor ofte det ses
Cranial defectMeget ofte (80–99 %)
EncephaloceleNogle gange (5–29 %)

Abnormality of prenatal development or birth

TraitHvor ofte det ses
Premature birthNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Spasticity and rigidity of musclesNogle gange (5–29 %)

Growth abnormality

TraitHvor ofte det ses
Faltering weightMeget ofte (80–99 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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