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Traits
Traits linked to RAF1
Raf-1 proto-oncogene, serine/threonine kinase
The Human Phenotype Ontology links 158 traits to RAF1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the cardiovascular system
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%) |
| Abnormality of the face | Often (30–79%) |
| Big calvaria | Often (30–79%) |
| Big lower jaw | Often (30–79%) |
| Depressed nasal bridge | Often (30–79%) |
| Eye folds | Often (30–79%) |
| Full lips | Often (30–79%) |
| Long, narrow head | Often (30–79%) |
| Low hairline at back of neck | Often (30–79%) |
| Prominent forehead | Often (30–79%) |
| Short neck | Often (30–79%) |
| Wide nasal bridge | Often (30–79%) |
| Broad head shape | Sometimes (5–29%) |
| Sparse eyebrow | Sometimes (5–29%) |
| Wide mouth | Sometimes (5–29%) |
| Abnormal facial shape | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal skin pigmentation | Very often (80–99%) |
| Beauty mark | Very often (80–99%) |
| Freckling | Very often (80–99%) |
| Giant pigmented mole | Very often (80–99%) |
| Hyperelastic skin | Very often (80–99%) |
| Liver spots | Very often (80–99%) |
| Mole | Very often (80–99%) |
| Abnormal fingerprints | Often (30–79%) |
| Abnormal hair quantity | Often (30–79%) |
| Coarse hair | Often (30–79%) |
| Dry skin | Often (30–79%) |
| Lack of sweating | Often (30–79%) |
| Poor wound healing | Often (30–79%) |
| Birthmark | Sometimes (5–29%) |
| Chicken skin | Sometimes (5–29%) |
| Curly hair | Sometimes (5–29%) |
| Cutaneous melanoma | Sometimes (5–29%) |
| Excessive hair growth | Sometimes (5–29%) |
| Excessive wrinkled skin | Sometimes (5–29%) |
| Fine hair | Sometimes (5–29%) |
| Firm lump under the skin | Sometimes (5–29%) |
| Itching | Sometimes (5–29%) |
| Patchy loss of skin color | Sometimes (5–29%) |
| Small nail | Rarely (1–4%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Double-Jointed | Very often (80–99%) |
| 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%) |
| Delayed bone maturation | Often (30–79%) |
| High shoulder blade | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| EMG abnormality | Sometimes (5–29%) |
| Loss of fat tissue in localized area | Sometimes (5–29%) |
| Muscle tissue disease | Sometimes (5–29%) |
| Osteopenia | Sometimes (5–29%) |
| Hypophosphatemic rickets | Rarely (1–4%) |
| Abnormality of the sternum | Not recorded |
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%) |
| Intellectual disability | Often (30–79%) |
| Neurodevelopmental delay | Often (30–79%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Cancer of early nerve cells | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Global developmental delay | Sometimes (5–29%) |
| Headache | Sometimes (5–29%) |
| Intellectual disability, mild | Sometimes (5–29%) |
| Pressure on spinal cord | Sometimes (5–29%) |
| Rise in pressure inside skull | Sometimes (5–29%) |
| Specific learning disability | Sometimes (5–29%) |
| Spina bifida occulta | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
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 | Sometimes (5–29%) |
| Juvenile myelomonocytic leukemia | Sometimes (5–29%) |
| Myelodysplasia | Sometimes (5–29%) |
| Thromboembolic stroke | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Very often (80–99%) |
| Low-set ears | Very often (80–99%) |
| Sensorineural hearing impairment | Very often (80–99%) |
| Severe sensorineural hearing impairment | Very often (80–99%) |
| Thickened helices | Very often (80–99%) |
| Aplasia of the semicircular canal | Sometimes (5–29%) |
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 the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the reproductive system | Very often (80–99%) |
| Decreased fertility | Often (30–79%) |
| Undescended testes | Often (30–79%) |
| Abnormal localisation of kidneys | Sometimes (5–29%) |
| Dilatation of the renal pelvis | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Outward turned elbows | Often (30–79%) |
| Winged shoulder blade | Often (30–79%) |
| Curvature of little finger | Sometimes (5–29%) |
| Fused forearm bones | Sometimes (5–29%) |
| Short fingers or toes | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Growth delay | Very often (80–99%) |
| Prenatal growth deficiency | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Birth weight > 90th percentile | Sometimes (5–29%) |
| Growth delay as children | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Absent/small abdominal wall muscles | Very often (80–99%) |
| Enlarged liver | Often (30–79%) |
| Feeding difficulties in infancy | 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%) |
| Premature breast development | Rarely (1–4%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Exertional breathlessness | Often (30–79%) |
| Orthopnea | Often (30–79%) |
| Softening of voice box tissue | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Fluid retention | Often (30–79%) |
| Swelling caused by excess lymph fluid under skin | Sometimes (5–29%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Cancer of skin pigment cells | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Often (30–79%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Wide-spaced nipples | Very often (80–99%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Abnormality of the voice | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | 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 RAF1 and how often each is seen. Find out more at hpo.jax.org.
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