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Traits
Traits linked to BUB3
BUB3 mitotic checkpoint protein
The Human Phenotype Ontology links 64 traits to BUB3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Dandy-Walker malformation | Very often (80–99%) |
| Eye folds | Very often (80–99%) |
| Increased nuchal translucency | Very often (80–99%) |
| Little lower jaw | Very often (80–99%) |
| Abnormally small head | Often (30–79%) |
| Triangular face | Often (30–79%) |
| Abnormality of the skull | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Downward slanting of the opening between the eyelids | Sometimes (5–29%) |
| Flat nose | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High forehead | Sometimes (5–29%) |
| Sloping forehead | Sometimes (5–29%) |
| Wide nose | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Ventriculomegaly | Very often (80–99%) |
| Global developmental delay | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Absent/small cerebellum | Sometimes (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Holoprosencephaly | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal aortic morphology | Sometimes (5–29%) |
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Aortic regurgitation | Sometimes (5–29%) |
| Narrowing of aorta | Sometimes (5–29%) |
| Narrowing of blood vessel below aortic heart valve | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormally small eyeball | Very often (80–99%) |
| Clouding of the lens of the eye | Very often (80–99%) |
| Corneal opacity | Very often (80–99%) |
| Glaucoma | Very often (80–99%) |
| Abnormality of the eye | Often (30–79%) |
| Abnormality of vision | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Accumulation of fluid in the abdomen | Very often (80–99%) |
| Absence or narrowing of first part of small bowel | Sometimes (5–29%) |
| Colon cancer | Sometimes (5–29%) |
| Growths in inner lining of intestine | Sometimes (5–29%) |
| Stomach cancer | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Muscular dystrophy | Very often (80–99%) |
| Abnormality of the skeletal system | Sometimes (5–29%) |
| Breakdown of bone | Sometimes (5–29%) |
| Low muscle tone | Sometimes (5–29%) |
| Rhabdomyosarcoma | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Ambiguous external genitalia | Sometimes (5–29%) |
| Multicystic kidney dysplasia | Sometimes (5–29%) |
| Nephroblastoma | Sometimes (5–29%) |
| Vaginal tumor | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Very often (80–99%) |
| Growth delay | Sometimes (5–29%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Acute lymphoblastic leukemia | Sometimes (5–29%) |
| Myelodysplasia | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormality of the upper limb | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal skin pigmentation | Sometimes (5–29%) |
| Multiple birthmarks | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal lung lobation | Sometimes (5–29%) |
| Apnea | Sometimes (5–29%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Very often (80–99%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Underactive thyroid | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Abnormality of immune system physiology | 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 BUB3 and how often each is seen. Find out more at hpo.jax.org.
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