Traits

Traits linked to CREB3L1

cAMP responsive element binding protein 3 like 1

The Human Phenotype Ontology links 22 traits to CREB3L1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Compression fracture of a vertebral body	Always
Double-Jointed	Always
Flattened vertebrae	Always
Multiple rib fractures	Always
Narrow chest	Always
Recurrent fractures	Always
Short long bone	Always
Osteopenia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Decreased number of teeth	Always
Extra bones within cranial sutures	Always
Small retruded chin	Always
Soft skullcap	Always

Abnormality of limbs

Trait	How often it is seen
Angulated long bone in upper arm	Always
Bowing of the long bones	Always
Disproportionately short middle portion of limb	Always
Disproportionately short upper portion of limb	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Always
Prolonged bleeding time	Always

Growth abnormality

Trait	How often it is seen
Short stature	Always
Small for gestational age	Not recorded

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	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 CREB3L1 and how often each is seen. Find out more at hpo.jax.org.

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