Traits

Traits linked to BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

The Human Phenotype Ontology links 108 traits to BUB1B, 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
Abnormally small head	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%)
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%)
Broad head shape	Not recorded
Depressed nasal bridge	Not recorded
Long philtrum	Not recorded
Midface retrusion	Not recorded
Nasal tip, upturned	Not recorded
Short neck	Not recorded
Short nose	Not recorded
Triangular mouth	Not recorded
Upward slanting of the opening between the eyelids	Not recorded
Zygomatic flattening	Not recorded

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%)
Paralysis of all four limbs	Sometimes (5–29%)
Small cerebrum	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded
Generalized myoclonic seizure	Not recorded
Grand mal seizures	Not recorded
Hypodysplasia of the corpus callosum	Not recorded
IQ less than 20	Not recorded
Severe global developmental delay	Not recorded
Small cerebellum	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

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
Cleft of scrotum	Not recorded
Cystic kidney disease	Not recorded
Hypospadias	Not recorded
Short penis	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Undescended testes	Not recorded
Uterine leiomyosarcoma	Not recorded

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%)
Feeding difficulties in infancy	Not recorded
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Stomach tumor	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%)
Involuntary, rapid, rhythmic eye movements	Not recorded
Wide-set eyes	Not recorded

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%)
Embryonal rhabdomyosarcoma	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Short sternum	Not recorded

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%)
Narrowing of pulmonic valve	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Small for gestational age	Always
Short stature	Very often (80–99%)
Growth delay	Sometimes (5–29%)
Growth delay as children	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute lymphoblastic leukemia	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Blood cancer	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Not recorded

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 prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)
Low levels of amniotic fluid	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)
Combined immunodeficiency	Not recorded

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 cellular phenotype

Trait	How often it is seen
Premature chromatid separation	Not recorded

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%)

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 BUB1B and how often each is seen. Find out more at hpo.jax.org.

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