Traits

Traits linked to UBTF

upstream binding transcription factor

The Human Phenotype Ontology links 45 traits to UBTF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Degeneration of cerebrum	Always
Hyperintensity of cerebral white matter on MRI	Always
IQ less than 20	Always
Loss of developmental milestones	Always
Underdevelopment of part of brain called corpus callosum	Always
Abnormal pyramidal sign	Very often (80–99%)
Abnormality of extrapyramidal motor function	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Inability to walk	Very often (80–99%)
Ataxia	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Difficulty finding words	Often (30–79%)
Dystonia	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Impaired pain sensation	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Parkinsonism	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Axonal loss	Not recorded
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Mental deterioration	Not recorded
Ongoing loss of nerve cells	Not recorded
Peripheral demyelination	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Decreased muscle tone in infant	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Feeding difficulties	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Development of small head that was not present at birth	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Not recorded

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

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