Traits

Traits linked to CBL

Cbl proto-oncogene

The Human Phenotype Ontology links 140 traits to CBL, 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
Cystic hygroma	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Full lower lip	Very often (80–99%)
High forehead	Very often (80–99%)
High palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Thickened skin folds of neck	Very often (80–99%)
Triangular face	Very often (80–99%)
Webbed neck	Very often (80–99%)
Abnormally small head	Often (30–79%)
Broad forehead	Often (30–79%)
Deep philtrum	Often (30–79%)
Eye folds	Often (30–79%)
Full lips	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Receding chin	Often (30–79%)
Short neck	Often (30–79%)
Depressed nasal bridge	Not recorded
Frontal bossing	Not recorded
Long philtrum	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormal EKG	Very often (80–99%)
Narrowing of lung artery	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Abnormal pulmonary valve morphology	Often (30–79%)
Abnormality of the lymphatic system	Often (30–79%)
Abnormality of the spleen	Often (30–79%)
Enlarged liver and spleen	Often (30–79%)
Increased spleen size	Often (30–79%)
Low blood pressure	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Hives	Sometimes (5–29%)
Hypersplenism	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)
Patent ductus arteriosus	Rarely (1–4%)
Aortic valve has two leaflets rather than three	Not recorded
Mitral regurgitation	Not recorded
Narrowing of aortic valve	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Juvenile myelomonocytic leukemia	Always
Abnormal mast cell morphology	Very often (80–99%)
Abnormal platelet function	Often (30–79%)
Abnormality of coagulation	Often (30–79%)
Bleeding tendency	Often (30–79%)
Elevated white blood count	Often (30–79%)
Increased CD25+ mast cell proportion	Often (30–79%)
Blood cancer	Sometimes (5–29%)
Blood tumor	Sometimes (5–29%)
Bruising susceptibility	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Funnel chest	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Pigeon chest	Very often (80–99%)
Wide rib cage	Very often (80–99%)
Bone pain	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Low muscle tone	Often (30–79%)
Osteoporosis	Often (30–79%)
Scoliosis	Often (30–79%)
Breakdown of bone	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Absent/small abdominal wall muscles	Very often (80–99%)
Abdominal cramps	Often (30–79%)
Abdominal pain	Often (30–79%)
Anorexia	Often (30–79%)
Diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Malabsorption	Often (30–79%)
Poor suck	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Decreased liver function	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingerprints	Often (30–79%)
Abnormal hair quantity	Often (30–79%)
Birthmark	Often (30–79%)
Coarse hair	Often (30–79%)
Fine hair	Often (30–79%)
Flushing	Often (30–79%)
Itching	Often (30–79%)
Sparse hair	Often (30–79%)
Abnormal blistering of the skin	Sometimes (5–29%)
Abnormal skin structure	Sometimes (5–29%)
Beauty mark	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal speech pattern	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Short attention span	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Thickened helices	Very often (80–99%)
Overfolded ears	Often (30–79%)
Aplasia of the semicircular canal	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Large ears	Not recorded
Low-set ears	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Very often (80–99%)
Drooping upper eyelid	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Blue eyes	Often (30–79%)
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Increased mobility in finger joint	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Fused forearm bones	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Outward turned elbows	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)
Growth delay as children	Often (30–79%)
Weight loss	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Often (30–79%)
Elevated total serum tryptase	Often (30–79%)
Chylothorax	Sometimes (5–29%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the reproductive system	Often (30–79%)
Undescended testes	Often (30–79%)
Dilatation of the renal pelvis	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Constitutional symptom	Often (30–79%)
Fatigue	Often (30–79%)
Joint pain	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Hypogonadotropic hypogonadism	Very often (80–99%)
Delayed start of first period	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Anaphylaxis	Often (30–79%)
Maculopapular exanthema	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Very often (80–99%)

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

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