Traits

Traits linked to FBXW7

F-box and WD repeat domain containing 7

The Human Phenotype Ontology links 22 traits to FBXW7, 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
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal shape of brain	Often (30–79%)
Ataxia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Delayed speech and language development	Rarely (1–4%)
Loss of developmental milestones	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Acid reflux	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Astigmatism	Rarely (1–4%)
Cerebral visual impairment	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the immune system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Laryngeal cleft	Rarely (1–4%)

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 FBXW7 and how often each is seen. Find out more at hpo.jax.org.

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