Traits

Traits linked to CUX1

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The Human Phenotype Ontology links 25 traits to CUX1, 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
Asymmetry of the posterior head	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Failure of development of more than six teeth	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)
Lateral ventricle dilatation	Sometimes (5–29%)
Poor fine motor coordination	Sometimes (5–29%)
Widened subarachnoid space	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Funnel chest	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)

Abnormality of the genitourinary system

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

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary sequestration	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	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 CUX1 and how often each is seen. Find out more at hpo.jax.org.

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