Traits

Traits linked to UGGT1

UDP-glucose glycoprotein glucosyltransferase 1

The Human Phenotype Ontology links 123 traits to UGGT1, by body system: features seen in people with one of the gene's rare conditions.

UGGT1

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Anxiety	Always
Attention deficit	Always
Autism	Always
Autism spectrum disorder	Always
Bilateral tonic-clonic seizure with generalized onset	Always
Cerebral palsy	Always
Clonic seizure	Always
Delayed motor skills	Always
Delayed speech and language development	Always
Difficulty sleeping	Always
Febrile seizure (within the age range of 3 months to 6 years)	Always
Focal impaired awareness seizure	Always
Global developmental delay	Always
Grand mal seizures	Always
Intellectual disability, severe	Always
Irritability	Always
Jerking	Always
Moderate global developmental delay	Always
More active than typical	Always
Myoclonic absence seizure	Always
Recurrent hand flapping	Always
Repeated seizures without recovery between them	Always
Repetitive movements	Always
Seizure affecting one half of brain	Always
Self-injurious behavior	Always
Severe global developmental delay	Always
Tonic seizure	Always
Tremor	Always
Delayed ability to walk	Very often (80–99%)
Babinski sign	Often (30–79%)
Brisk reflexes	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Gray matter heterotopia	Often (30–79%)
Inability to walk	Often (30–79%)
Interictal EEG abnormality	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Persistent head lag	Sometimes (5–29%)
Poor eye contact	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Both sided cleft lip	Always
Coarse facial features	Always
Drooling	Always
High forehead	Always
Increased nuchal translucency	Always
Little lower jaw	Always
Long face	Always
Long philtrum	Always
Prominent nasal bridge	Always
Prominent nose	Always
Sloping forehead	Always
Smooth philtrum	Always
Thin red part of the upper lip	Always
Triangular face	Always
Upward slanting of the opening between the eyelids	Always
Wide nasal bridge	Always
Wry neck	Always
Development of small head that was not present at birth	Very often (80–99%)
Short philtrum	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Aortic valve has two leaflets rather than three	Always
Bilateral superior vena cava	Always
Common atrium	Always
Double outlet right ventricle	Always
Enlarged heart	Always
Hole in heart wall separating two lower heart chambers	Always
Mitral atresia	Always
Patent ductus arteriosus	Always
Patent foramen ovale	Always
Transposition of the great arteries	Always
Underdeveloped aortic arch	Always

Abnormality of the eye

Trait	How often it is seen
Cat eye	Always
Cross-eyed	Always
Hole in the back of the eye	Always
Optic disc coloboma	Always
Wide-set eyes	Always
Horizontal nystagmus	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hernia	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Lower limb spasticity	Always
Thoracic hemivertebrae	Always
Elbow contracture	Often (30–79%)
Low muscle tone	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Always
Overlapping toe	Always
Webbed fingers or toes	Always
Knee contracture	Often (30–79%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Overlapping fingers	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Echogenic fetal bowel	Always
Feet or buttocks of fetus positioned near opening of uterus	Always
Low levels of amniotic fluid	Always
Only one artery in umbilical cord instead of two	Always
Short fetal thigh bone length	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Increased hepatic echogenicity	Sometimes (5–29%)
Intrahepatic bile duct dilatation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Ambiguous external genitalia	Always
Cystic renal dysplasia	Always
Hydronephrosis	Always
Undescended testes	Always
Unilateral cryptorchidism	Always

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Always
Central apnea	Always
Neonatal respiratory distress	Always
Poorly developed lungs	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Cyclically decreased total neutrophil count	Always
Low blood neutrophil count	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Always
Excessive hairiness	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

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 UGGT1 and how often each is seen. Find out more at hpo.jax.org.

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