Traits

Traits linked to BCOR

BCL6 corepressor

The Human Phenotype Ontology links 191 traits to BCOR, 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
Delayed eruption of teeth	Always
Delayed loss of baby teeth	Always
High palate	Always
Long philtrum	Always
Abnormal dentition	Very often (80–99%)
Cleft nasal tip	Very often (80–99%)
Abnormal dental position	Often (30–79%)
Abnormality of dental shape	Often (30–79%)
Abnormality of the palate	Often (30–79%)
Abnormally small head	Often (30–79%)
Bifid uvula	Often (30–79%)
Broad nasal tip	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Failure of development of more than six teeth	Often (30–79%)
Fused teeth	Often (30–79%)
Narrow face	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Radiculomegaly	Often (30–79%)
Submucous cleft hard palate	Often (30–79%)
Adhesion of eyelids	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Inflammation of the mouth	Sometimes (5–29%)
Only one upper front tooth	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Absence of upper lateral incisor	Not recorded
Bad bite	Not recorded
Cleft upper lip	Not recorded
Dental crowding	Not recorded
Extra teeth	Not recorded
High, narrow palate	Not recorded
Laterally curved eyebrow	Not recorded
Long face	Not recorded
Narrow opening between the eyelids	Not recorded
Thick eyebrow	Not recorded

Abnormality of limbs

Trait	How often it is seen
Contracture of the proximal interphalangeal joint of the 2nd toe	Always
Contracture of the proximal interphalangeal joint of the 3rd toe	Always
Curvature of digit	Always
Prominent fingertip pads	Always
Webbed fingers or toes	Always
Broad big toe	Often (30–79%)
Broad palm	Often (30–79%)
Complete duplication of thumb bones	Often (30–79%)
Curvature of little finger	Often (30–79%)
Finger syndactyly	Often (30–79%)
Flexion contracture of the 2nd toe	Often (30–79%)
Flexion contracture of the 4th toe	Often (30–79%)
Fused forearm bones	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Hammertoe	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Webbed 2nd and 3rd toes	Often (30–79%)
Webbed skin of 2nd-3rd toes	Often (30–79%)
Club feet	Sometimes (5–29%)
Hand clenching	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)
Short thumb	Sometimes (5–29%)
Abnormal palmar dermatoglyphics	Not recorded
Joint contracture of the hand	Not recorded
Radial deviation of finger	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Absence of eyeballs	Always
Cat eye	Always
Clouding of the lens of the eye at birth	Always
Clouding of the lens of the eye	Very often (80–99%)
Cornea of eye less than 10mm in diameter	Very often (80–99%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Glaucoma	Often (30–79%)
Optic disc coloboma	Often (30–79%)
Ectopia lentis	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Phthisis bulbi	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Blindness	Not recorded
Ciliary body coloboma	Not recorded
Outward facing eye ball	Not recorded
Remnants of the hyaloid vascular system	Not recorded
Visual loss	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Generalized decreased muscle tone	Always
Scoliosis	Always
Muscle weakness	Often (30–79%)
Abnormal collarbone	Sometimes (5–29%)
Abnormality of the shoulder	Sometimes (5–29%)
Bone pain	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Long rib cage	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Excessive inward curvature of lower spine	Not recorded
Kyphoscoliosis	Not recorded
Low muscle tone	Not recorded
Narrow chest	Not recorded
Permanent flexion of the finger or toe	Not recorded
Rounded shoulders	Not recorded
Short collarbone	Not recorded
Spastic diplegia	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding gums	Often (30–79%)
Bleeding tendency	Often (30–79%)
Blood spots	Often (30–79%)
Bloody nose	Often (30–79%)
Bone marrow hypercellularity	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Disseminated intravascular coagulation	Often (30–79%)
Ecchymosis	Often (30–79%)
Low blood cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Petechiae	Often (30–79%)
Diffuse alveolar hemorrhage	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Hypofibrinogenemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Very often (80–99%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Narrowing of peripheral lung artery	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Underdeveloped aortic arch	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Not recorded
Narrowing of aortic valve	Not recorded
Narrowing of pulmonic valve	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Motor delay	Always
Intellectual disability, mild	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Addictive alcohol use	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Aggressive behavior	Not recorded
Self-mutilation	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Often (30–79%)
Dizziness	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Cupped ear	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Anteverted ears	Not recorded
Asymmetric ears	Not recorded
Low-set ears	Not recorded
Overfolded ears	Not recorded
Recurrent middle ear infection	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Absent anus	Not recorded
Enlarged colon lacking nerve cells	Not recorded
Pyloric stenosis	Not recorded
Rectum protrudes through anus	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent/small kidney	Often (30–79%)
Hydronephrosis	Often (30–79%)
Hydroureter	Often (30–79%)
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal uterus bleeding	Rarely (1–4%)
Double vagina	Not recorded
Small kidneys	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Weight loss	Often (30–79%)
Decreased body weight	Sometimes (5–29%)
Growth delay	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Poorly developed lungs	Sometimes (5–29%)
Wet cough	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal insufficiency	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Blood in urine	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Chronic infection	Often (30–79%)

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

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