Traits

Traits linked to TBCB

tubulin folding cofactor B

The Human Phenotype Ontology links 30 traits to TBCB, 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
Little lower jaw	Often (30–79%)
Broad forehead	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Peripheral nerve disease	Always
Delayed speech and language development	Very often (80–99%)
Motor delay	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Intellectual disability	Often (30–79%)
Thin corpus callosum	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Drooping upper eyelid	Always
Deeply set eye	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Permanent flexion of the finger or toe	Always

Abnormality of limbs

Trait	How often it is seen
Hammertoe	Always
Long palm	Always
Slender finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

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

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