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Traits
Traits linked to MRAS
muscle RAS oncogene homolog
The Human Phenotype Ontology links 83 traits to MRAS, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Bulbous nose | Always |
| Depressed nasal bridge | Always |
| Downward slanting of the opening between the eyelids | Always |
| Full lips | Always |
| Relatively large head | Always |
| Cystic hygroma | 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%) |
| Long face | Often (30–79%) |
| Low hairline at back of neck | Often (30–79%) |
| Pointed chin | Often (30–79%) |
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%) |
| An opening in the wall separating the top two chambers of the heart | Often (30–79%) |
| Enlarged and thickened heart muscle | Often (30–79%) |
| Narrowing of pulmonic valve | Often (30–79%) |
| Narrowing of aorta | Sometimes (5–29%) |
| Patent ductus arteriosus | 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%) |
| Low muscle tone | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Osteopenia | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed ability to walk | Always |
| Delayed speech and language development | Always |
| Global developmental delay | Always |
| Abnormal speech pattern | Very often (80–99%) |
| Difficulty articulating speech | Very often (80–99%) |
| Neurodevelopmental delay | Often (30–79%) |
| Intellectual disability | Sometimes (5–29%) |
| Specific learning disability | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Bilateral sensorineural hearing impairment | Always |
| Ears rotated toward back of head | Always |
| Low-set ears | Always |
| Thickened helices | Very often (80–99%) |
| Aplasia of the semicircular canal | Sometimes (5–29%) |
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Always |
| Bulging eye | Very often (80–99%) |
| Drooping upper eyelid | Very often (80–99%) |
| Blue eyes | Often (30–79%) |
| Cross-eyed | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | 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%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Excessive wrinkled skin of palms and soles | Often (30–79%) |
| Curvature of little finger | Sometimes (5–29%) |
| Fused forearm bones | Sometimes (5–29%) |
| Short fingers or toes | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal fingerprints | Often (30–79%) |
| Abnormal hair quantity | Often (30–79%) |
| Coarse hair | Often (30–79%) |
| Beauty mark | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties in infancy | Always |
| Absent/small abdominal wall muscles | Very often (80–99%) |
| Enlarged liver | Often (30–79%) |
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%) |
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%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Very often (80–99%) |
| Growth delay as children | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Wide-spaced nipples | Very often (80–99%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Swelling caused by excess lymph fluid under skin | 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 MRAS and how often each is seen. Find out more at hpo.jax.org.
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