Traits

Traits linked to UFC1

ubiquitin-fold modifier conjugating enzyme 1

The Human Phenotype Ontology links 66 traits to UFC1, by body system: features seen in people with one of the gene's rare conditions.

UFC1

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Epilepsy	Often (30–79%)
Increased reflexes	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Generalized dystonia	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Intention tremor	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Overactive lower leg reflex	Sometimes (5–29%)
Reduced cerebral white matter volume	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Very often (80–99%)
Expressionless face	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Flat back of skull	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)
Tented mouth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Farsightedness	Sometimes (5–29%)
Hypertropia	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Abnormality of eye movement	Not recorded

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always
Bilateral coxa valga	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Opisthotonus	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Poor head control	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Feeding difficulties	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large earlobe	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Always
Short stature	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Sometimes (5–29%)
Nail pits	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of the immune system

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

Abnormality of the respiratory system

Trait	How often it is seen
Softening of voice box tissue	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 UFC1 and how often each is seen. Find out more at hpo.jax.org.

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