Traits

Traits linked to BRAF

B-Raf proto-oncogene, serine/threonine kinase

The Human Phenotype Ontology links 359 traits to BRAF, 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
Big calvaria	Always
Broad neck	Always
Bulbous nose	Always
Coarse facial features	Always
Depressed nasal bridge	Always
Downward slanting of the opening between the eyelids	Always
Full lower lip	Always
Long philtrum	Always
Long, narrow head	Always
Low hairline at back of neck	Always
Narrow forehead	Always
Palpebral thickening	Always
Prominent forehead	Always
Short neck	Always
Short nose	Always
Sparse eyebrow	Always
Webbed neck	Always
Abnormal eyelashes	Very often (80–99%)
Absent eyebrow	Very often (80–99%)
Broad opening between the eyelids	Very often (80–99%)
Cystic hygroma	Very often (80–99%)
Flattened bony protrusion above eyes	Very often (80–99%)
Full cheeks	Very often (80–99%)
High forehead	Very often (80–99%)
High palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long face	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Sparse or absent eyebrows	Very often (80–99%)
Sparse scalp hair	Very often (80–99%)
Thickened skin folds of neck	Very often (80–99%)
Triangular face	Very often (80–99%)
Abnormality of the chin	Often (30–79%)
Abnormality of the face	Often (30–79%)
Broad forehead	Often (30–79%)
Cheekbone underdevelopment	Often (30–79%)
Dark color of gums	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Deep philtrum	Often (30–79%)
Eye folds	Often (30–79%)
Frontal bossing	Often (30–79%)
Full lips	Often (30–79%)
Moon face	Often (30–79%)
Sparse or absent eyelashes	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Big sella turcica	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Abnormality of the bone of the forehead	Rarely (1–4%)
Abnormality of the nasal bone	Rarely (1–4%)
Abnormal dentition	Not recorded
Absent eyelashes	Not recorded
Bad bite	Not recorded
High, narrow palate	Not recorded
Open bite	Not recorded
Open mouth	Not recorded
Relatively large head	Not recorded

Abnormality of the integument

Trait	How often it is seen
Curly hair	Always
Dry skin	Always
Few cafe-au-lait spots	Always
Hyperkeratosis	Always
Liver spots	Always
Numerous moles	Always
Abnormal skin pigmentation	Very often (80–99%)
Beauty mark	Very often (80–99%)
Brittle hair	Very often (80–99%)
Excessive sweating	Very often (80–99%)
Excessive wrinkled skin	Very often (80–99%)
Fine hair	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Freckling	Very often (80–99%)
Giant pigmented mole	Very often (80–99%)
Hyperelastic skin	Very often (80–99%)
Mole	Very often (80–99%)
Papule	Very often (80–99%)
Abnormal blistering of the skin	Often (30–79%)
Abnormal fingerprints	Often (30–79%)
Abnormal hair quantity	Often (30–79%)
Buffalo hump	Often (30–79%)
Chicken skin	Often (30–79%)
Coarse hair	Often (30–79%)
Excessive hairiness	Often (30–79%)
Generalized hyperpigmentation	Often (30–79%)
Ichthyosis	Often (30–79%)
Lack of sweating	Often (30–79%)
Lentigo maligna melanoma	Often (30–79%)
Multiple birthmarks	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Plethora	Often (30–79%)
Poor fingernail formation	Often (30–79%)
Poor wound healing	Often (30–79%)
Slow-growing hair	Often (30–79%)
Sparse hair	Often (30–79%)
Stretch marks	Often (30–79%)
Thin skin	Often (30–79%)
Afro-textured hair	Sometimes (5–29%)
Birthmark	Sometimes (5–29%)
Cutaneous melanoma	Sometimes (5–29%)
Excessive hair growth	Sometimes (5–29%)
Flushing	Sometimes (5–29%)
Itching	Sometimes (5–29%)
Loose redundant skin	Sometimes (5–29%)
Nevus sebaceous	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)
Atypical mole	Not recorded
Atypical nevi in non-sun exposed areas	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of hypothalamus	Always
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Degeneration of cerebrum	Always
Epilepsy	Always
Intellectual disability	Always
Intellectual disability, severe	Always
Severe global developmental delay	Always
Abnormal speech pattern	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intracranial cystic lesion	Very often (80–99%)
Autism	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Can't control feelings	Often (30–79%)
Difficulty sleeping	Often (30–79%)
EEG abnormality	Often (30–79%)
Excessive daytime sleepiness	Often (30–79%)
Headache	Often (30–79%)
Motor delay	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Cancer of early nerve cells	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Increased appetite	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)
Psychotic episodes	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Suicidal ideation	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Coma	Rarely (1–4%)
Dementia	Rarely (1–4%)
Panic attack	Rarely (1–4%)
Paranoia	Rarely (1–4%)
Psychosis	Rarely (1–4%)
Aplasia/Hypoplasia of the corpus callosum	Not recorded
Cognitive impairment	Not recorded
Tongue thrusting	Not recorded
Underdeveloped frontal lobe	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormal EKG	Very often (80–99%)
Abnormal heart rate	Very often (80–99%)
Abnormal heart valve morphology	Very often (80–99%)
Abnormal pulmonary valve morphology	Very often (80–99%)
Abnormality of lung artery	Very often (80–99%)
An opening in the wall separating the top two chambers of the heart	Very often (80–99%)
Bundle branch block	Very often (80–99%)
Enlarged and thickened heart muscle	Very often (80–99%)
Narrowing of lung artery	Very often (80–99%)
Narrowing of pulmonic valve	Very often (80–99%)
Abnormal mitral valve morphology	Often (30–79%)
Abnormality of the cardiovascular system	Often (30–79%)
Abnormality of the lymphatic system	Often (30–79%)
Abnormality of the spleen	Often (30–79%)
Capillary fragility	Often (30–79%)
Collection of dilated blood vessels that forms mass	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
High blood pressure	Often (30–79%)
Hole in center of heart	Often (30–79%)
Mitral valve prolapse	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Abnormal endocardium morphology	Sometimes (5–29%)
Aneurysm	Sometimes (5–29%)
Disruption of blood oxygen supply to brain	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)
Patent ductus arteriosus	Rarely (1–4%)
Abnormal aortic valve morphology	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Funnel chest	Always
Low muscle tone, in neonatal onset	Always
Scoliosis	Always
Shield chest	Always
Wide rib cage	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Generalized decreased muscle tone	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Pigeon chest	Very often (80–99%)
Fatiguable weakness of proximal limb muscles	Often (30–79%)
High shoulder blade	Often (30–79%)
Osteoporosis	Often (30–79%)
Wasting of muscles near the body	Often (30–79%)
Abnormality of the sternum	Sometimes (5–29%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Increased susceptibility to fractures	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Death of bone due to decreased blood supply	Rarely (1–4%)
Hypophosphatemic rickets	Rarely (1–4%)
Kyphoscoliosis	Not recorded
Pectus excavatum of inferior sternum	Not recorded
Spasticity and rigidity of muscles	Not recorded
Superior pectus carinatum	Not recorded
Synovitis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue eyes	Always
Bulging eye	Always
Farsightedness	Always
Wide-set eyes	Always
Abnormality of the eye	Very often (80–99%)
Abnormality of vision	Very often (80–99%)
Drooping upper eyelid	Very often (80–99%)
Abnormal visual field test	Often (30–79%)
Bitemporal hemianopia	Often (30–79%)
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Papilledema	Often (30–79%)
Progressive visual field defects	Often (30–79%)
Slow decrease in sharpness of vision	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Optic nerve compression	Rarely (1–4%)
Partial loss of field of vision	Rarely (1–4%)
Sudden decrease in vision	Rarely (1–4%)
Oculomotor apraxia	Not recorded
Optic nerve dysplasia	Not recorded
Progressive loss of vision	Not recorded
Uveal melanoma	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Absent/small abdominal wall muscles	Very often (80–99%)
Feeding difficulties in infancy	Very often (80–99%)
Impaired oropharyngeal swallow response	Very often (80–99%)
Poor suck	Very often (80–99%)
Abnormality of esophagus structure	Often (30–79%)
Enlarged liver	Often (30–79%)
Gastrostomy tube feeding in infancy	Often (30–79%)
Nasogastric tube feeding in infancy	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Functional abnormality of the gastrointestinal tract	Sometimes (5–29%)
Acid reflux	Not recorded
Colon cancer	Not recorded
Constipation	Not recorded
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Poor swallowing	Not recorded
Stomach tumor	Not recorded
Vomiting	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Enlarged pituitary gland	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Hypopituitarism	Very often (80–99%)
Increased circulating cortisol level	Very often (80–99%)
Neoplasm of the anterior pituitary	Very often (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Very often (80–99%)
Pituitary corticotropic cell adenoma	Very often (80–99%)
Central adrenal insufficiency	Often (30–79%)
Central diabetes insipidus	Often (30–79%)
Decreased activity of gonads	Often (30–79%)
Enlarged adrenal glands	Often (30–79%)
Increased circulating ACTH level	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Delayed puberty	Sometimes (5–29%)
Delayed start of first period	Sometimes (5–29%)
Premature breast development	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the reproductive system	Very often (80–99%)
Undescended testes	Very often (80–99%)
Abnormal absence of menstruation	Often (30–79%)
Decreased fertility	Often (30–79%)
Abnormal libido	Sometimes (5–29%)
Abnormal localisation of kidneys	Sometimes (5–29%)
Dilatation of the renal pelvis	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Light or infrequent menstrual periods	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Cancer starting in small tubes in kidneys	Not recorded
Male infertility	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Uterine leiomyosarcoma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal platelet function	Often (30–79%)
Abnormality of coagulation	Often (30–79%)
Bleeding tendency	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Decreased total eosinophil count	Often (30–79%)
Elevated white blood count	Often (30–79%)
Blood spots	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)
Juvenile myelomonocytic leukemia	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Amegakaryocytic thrombocytopenia	Not recorded
Reduced factor XII activity	Not recorded
Reduced factor XIII activity	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Outward turned elbows	Always
Thickening of palms and soles	Very often (80–99%)
Abnormal morphology of ulna	Often (30–79%)
Deep palm line	Often (30–79%)
Winged shoulder blade	Often (30–79%)
Fused forearm bones	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Fluid accumulation in lower limbs	Rarely (1–4%)
Curvature of digit	Not recorded
Finger joint hyperextensibility	Not recorded
Multiple plantar creases	Not recorded
Radial deviation of finger	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Always
Faltering weight	Very often (80–99%)
Faltering weight in infancy	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Abdominal obesity	Often (30–79%)
Birth weight > 90th percentile	Often (30–79%)
Increased body weight	Often (30–79%)
Obesity	Often (30–79%)
Truncal obesity	Often (30–79%)
Growth delay as children	Sometimes (5–29%)
Proportionate short stature	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Sensorineural hearing impairment	Always
Thickened helices	Always
Severe sensorineural hearing impairment	Very often (80–99%)
Large earlobe	Often (30–79%)
Large ears	Often (30–79%)
Aplasia of the semicircular canal	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Dizziness	Rarely (1–4%)
Earlobe crease	Not recorded

Laboratory abnormality

Trait	How often it is seen
High urine cortisol level	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
Impaired glucose tolerance	Often (30–79%)
Chylothorax	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Often (30–79%)
Decreased immune function	Often (30–79%)
Recurrent cutaneous fungal infections	Sometimes (5–29%)
Recurrent infections	Rarely (1–4%)
Baby eczema	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)
Alveolar cell carcinoma	Not recorded
Lung adenocarcinoma	Not recorded
Non-small cell lung carcinoma	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Cancer of skin pigment cells	Sometimes (5–29%)
Malignant peripheral nerve sheath tumor	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)
High levels of amniotic fluid	Not recorded

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Always

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	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 BRAF and how often each is seen. Find out more at hpo.jax.org.

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