Traits

Traits linked to BUB1

BUB1 mitotic checkpoint serine/threonine kinase

The Human Phenotype Ontology links 83 traits to BUB1, by body system: features seen in people with one of the gene's rare conditions.

BUB1

Abnormality of head or neck

Trait	How often it is seen
Small head present at birth	Always
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%)
Broad opening between the eyelids	Often (30–79%)
Cleft soft palate	Often (30–79%)
Narrowing of the rear opening of the nasal cavity	Often (30–79%)
Pierre-Robin sequence	Often (30–79%)
Thin red part of the upper lip	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 digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Very often (80–99%)
Inguinal hernia	Often (30–79%)
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%)
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Stomach tumor	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Intellectual disability	Always
Ventriculomegaly	Always
Global developmental delay	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
Secundum atrial septal defect	Always
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 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%)
Cancer starting in small tubes in kidneys	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Uterine leiomyosarcoma	Not recorded

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 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 integument

Trait	How often it is seen
Birthmark	Often (30–79%)
Darkened and thickened skin	Often (30–79%)
Abnormal skin pigmentation	Sometimes (5–29%)
Multiple birthmarks	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Uplifted earlobe	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Narrowing of windpipe	Always
Abnormal lung lobation	Sometimes (5–29%)
Apnea	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Growth delay	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
Curvature of little finger	Often (30–79%)
Abnormality of the upper limb	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)
Fetal distress	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

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 BUB1 and how often each is seen. Find out more at hpo.jax.org.

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