Traits

Traits linked to SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

The Human Phenotype Ontology links 98 traits to SOS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Cât de frecvent apare
Depressed nasal bridge	Întotdeauna
Eye folds	Întotdeauna
Gingival fibromatosis	Întotdeauna
Sparse eyebrow	Întotdeauna
Cystic hygroma	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Full lips	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
Gum enlargement	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Thickened skin folds of neck	Foarte des (80–99%)
Triangular face	Foarte des (80–99%)
Webbed neck	Foarte des (80–99%)
Wide mouth	Foarte des (80–99%)
Big calvaria	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Bad bite	Neînregistrat
High frontal hairline	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Narrowing of lung artery	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Abnormal pulmonary valve morphology	Des (30–79%)
Abnormality of the lymphatic system	Des (30–79%)
Abnormality of the spleen	Des (30–79%)
Narrowing of pulmonic valve	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Abnormality of the sternum	Întotdeauna
Delayed bone maturation	Întotdeauna
Funnel chest	Întotdeauna
Scoliosis	Întotdeauna
Double-Jointed	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Wide rib cage	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Osteopenia	Uneori (5–29%)
Pectus excavatum of inferior sternum	Neînregistrat

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Prolonged partial thromboplastin time	Întotdeauna
Reduced factor VIII activity	Întotdeauna
Reduced factor XI activity	Întotdeauna
Abnormal platelet function	Des (30–79%)
Abnormality of coagulation	Des (30–79%)
Bleeding tendency	Des (30–79%)
Bruising susceptibility	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Low platelet count	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Blue eyes	Întotdeauna
Drooping of both upper eyelids	Întotdeauna
Drooping upper eyelid	Întotdeauna
Wide-set eyes	Întotdeauna
Bulging eye	Foarte des (80–99%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Curly hair	Foarte des (80–99%)
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Chicken skin	Des (30–79%)
Coarse hair	Des (30–79%)
Beauty mark	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Întotdeauna
Low-set ears	Întotdeauna
Thickened helices	Întotdeauna
Aplasia of the semicircular canal	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormality of the reproductive system	Des (30–79%)
Undescended testes	Des (30–79%)
Dilatation of the renal pelvis	Uneori (5–29%)
Double ureter	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Neurodevelopmental delay	Des (30–79%)
Intellectual disability	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Curvature of little finger	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Outward turned elbows	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Absent/small abdominal wall muscles	Foarte des (80–99%)
Enlarged liver	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Birth weight > 90th percentile	Des (30–79%)
Growth delay as children	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Delayed start of first period	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
High levels of amniotic fluid	Întotdeauna

Abnormality of the breast

Trait	Cât de frecvent apare
Wide-spaced nipples	Întotdeauna

Laboratory abnormality

Trait	Cât de frecvent apare
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SOS1 and how often each is seen. Find out more at hpo.jax.org.

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