Traits

Traits linked to UBE2A

ubiquitin conjugating enzyme E2 A

The Human Phenotype Ontology links 81 traits to UBE2A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Almond shaped eyes	Always
Broad neck	Always
Decreased volume of lip	Always
Downturned corners of mouth	Always
Monobrow	Always
Prominent brow	Always
Low hanging columella	Very often (80–99%)
Wide mouth	Very often (80–99%)
Big calvaria	Often (30–79%)
Broad face	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Midface retrusion	Often (30–79%)
Short neck	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Deep philtrum	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Underdeveloped tissue around nostril	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Hypointensity of cerebral white matter on MRI	Always
Intellectual disability	Always
Delayed motor skills	Very often (80–99%)
Poor speech	Very often (80–99%)
Abnormal cerebral white matter morphology	Often (30–79%)
Absent speech development	Often (30–79%)
Aggressive behavior	Often (30–79%)
Echoing another person's speech	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Hypoplasia of the pons	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Abnormal vena cava morphology	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Mitral stenosis	Sometimes (5–29%)
Narrowing of peripheral lung artery	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Always
Dropped arches	Always
Short foot	Always
High-arched foot	Often (30–79%)
Club foot on both sides	Sometimes (5–29%)
Clubbed toes	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	Always
Excessive hairiness	Very often (80–99%)
Abnormal hair whorl	Often (30–79%)
Excessive hairiness over body	Often (30–79%)
Patchy hypopigmentation	Often (30–79%)
Poor nail formation	Often (30–79%)
Lumbar hypertrichosis	Sometimes (5–29%)
Patchy hypo- and hyperpigmentation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Very often (80–99%)
Vesicoureteral reflux	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always
Wide-set eyes	Often (30–79%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent cutaneous abscess formation	Sometimes (5–29%)
Recurrent ear infections	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Dislocated leg joints	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Increased body weight	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Neonatal hyperbilirubinemia	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 UBE2A and how often each is seen. Find out more at hpo.jax.org.

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