Traits

Traits linked to CBFB

core-binding factor subunit beta

The Human Phenotype Ontology links 22 traits to CBFB, 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
Decreased size of maxilla	Often (30–79%)
Wider-than-typical soft spot of skull	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Delayed eruption of baby teeth	Sometimes (5–29%)
Extra teeth	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Delayed maturation of wrist bone	Always
Short outermost finger bone	Always
Broad thumb	Sometimes (5–29%)
Coxa valga	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital pseudoarthrosis of the clavicle	Often (30–79%)
Delayed maturation of pubic bone	Often (30–79%)
Absent collarbone	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Rounded shoulders	Sometimes (5–29%)
Short collarbone	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 CBFB and how often each is seen. Find out more at hpo.jax.org.

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