Trăsături

Trăsături asociate cu SEMA3E

semaphorin 3E

Human Phenotype Ontology asociază 99 trăsături cu SEMA3E, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Lost smell	Foarte des (80–99%)
Abnormal soft palate morphology	Des (30–79%)
Bell's palsy	Des (30–79%)
Blockage of the rear opening of the nasal cavity	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Dimple chin	Des (30–79%)
Facial asymmetry	Des (30–79%)
Narrow face	Des (30–79%)
Narrow mouth	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Cheekbone underdevelopment	Uneori (5–29%)
Cleft eyelid	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Skin tag in front of the ear	Uneori (5–29%)
Webbed neck	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cat eye	Foarte des (80–99%)
Notched pupil	Foarte des (80–99%)
Abnormally small eyeball	Des (30–79%)
Absence of eyeballs	Des (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Optic atrophy	Des (30–79%)
Abnormality of tear production	Uneori (5–29%)
Abnormality of the eye	Uneori (5–29%)
Abnormality of vision	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Decreased testicular size	Întotdeauna
Primary amenorrhea	Întotdeauna
Short penis	Întotdeauna
Undescended testes	Foarte des (80–99%)
Abnormal morphology of female internal genitalia	Des (30–79%)
Cleft of scrotum	Des (30–79%)
Underdeveloped labia	Des (30–79%)
Horseshoe kidney	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Infertility	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal cranial nerve morphology	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Autism	Des (30–79%)
Intellectual disability	Des (30–79%)
Obsessive compulsive behavior	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Aqueductal stenosis	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the inner ear	Foarte des (80–99%)
Abnormally shaped ears	Foarte des (80–99%)
Absent/small ear lobes	Foarte des (80–99%)
Hearing impairment	Foarte des (80–99%)
Hypoplasia of the semicircular canal	Foarte des (80–99%)
Overfolded ears	Foarte des (80–99%)
Ears rotated toward back of head	Des (30–79%)
Small ears	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal aortic valve morphology	Des (30–79%)
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal cardiovascular system morphology	Des (30–79%)
Aortic arch aneurysm	Des (30–79%)
Interrupted aortic arch	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
Tetralogy of Fallot	Des (30–79%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the shankbone	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Notched thighbone	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Talipes	Uneori (5–29%)
More than five fingers or toes on hands or feet	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Poor swallowing	Des (30–79%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Omphalocele	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Abnormality of bone mineral density	Uneori (5–29%)
Abnormality of the ribs	Uneori (5–29%)
Missing part of vertebrae	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Întotdeauna
Delayed puberty	Foarte des (80–99%)
Anterior hypopituitarism	Des (30–79%)
Adrenal abnormalities	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Des (30–79%)
Short stature	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Limited armpit hair	Întotdeauna
Sparse pubic hair	Întotdeauna

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory function loss	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of immune system physiology	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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SEMA3E și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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