Traits

Traits linked to SEMA3E

semaphorin 3E

The Human Phenotype Ontology links 99 traits to SEMA3E, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Lost smell	Labai dažnai (80–99%)
Abnormal soft palate morphology	Dažnai (30–79%)
Bell's palsy	Dažnai (30–79%)
Blockage of the rear opening of the nasal cavity	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Dimple chin	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Narrow face	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Cheekbone underdevelopment	Kartais (5–29%)
Cleft eyelid	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Cleft upper lip	Kartais (5–29%)
Dandy-Walker malformation	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Skin tag in front of the ear	Kartais (5–29%)
Webbed neck	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cat eye	Labai dažnai (80–99%)
Notched pupil	Labai dažnai (80–99%)
Abnormally small eyeball	Dažnai (30–79%)
Absence of eyeballs	Dažnai (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Abnormality of tear production	Kartais (5–29%)
Abnormality of the eye	Kartais (5–29%)
Abnormality of vision	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Decreased testicular size	Visada
Primary amenorrhea	Visada
Short penis	Visada
Undescended testes	Labai dažnai (80–99%)
Abnormal morphology of female internal genitalia	Dažnai (30–79%)
Cleft of scrotum	Dažnai (30–79%)
Underdeveloped labia	Dažnai (30–79%)
Horseshoe kidney	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Infertility	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal cranial nerve morphology	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Absent/small cerebellum	Kartais (5–29%)
Aqueductal stenosis	Kartais (5–29%)
Cranial nerve paralysis	Kartais (5–29%)
Holoprosencephaly	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormality of the inner ear	Labai dažnai (80–99%)
Abnormally shaped ears	Labai dažnai (80–99%)
Absent/small ear lobes	Labai dažnai (80–99%)
Hearing impairment	Labai dažnai (80–99%)
Hypoplasia of the semicircular canal	Labai dažnai (80–99%)
Overfolded ears	Labai dažnai (80–99%)
Ears rotated toward back of head	Dažnai (30–79%)
Small ears	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal aortic valve morphology	Dažnai (30–79%)
Abnormal cardiac septum morphology	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Aortic arch aneurysm	Dažnai (30–79%)
Interrupted aortic arch	Dažnai (30–79%)
Patent ductus arteriosus	Dažnai (30–79%)
Tetralogy of Fallot	Dažnai (30–79%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormality of the shankbone	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Notched thighbone	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Talipes	Kartais (5–29%)
More than five fingers or toes on hands or feet	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Abnormal connection between trachea and esophagus	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Omphalocele	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone	Dažnai (30–79%)
Abnormality of bone mineral density	Kartais (5–29%)
Abnormality of the ribs	Kartais (5–29%)
Missing part of vertebrae	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Hypogonadotropic hypogonadism	Visada
Delayed puberty	Labai dažnai (80–99%)
Anterior hypopituitarism	Dažnai (30–79%)
Adrenal abnormalities	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Growth delay as children	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Limited armpit hair	Visada
Sparse pubic hair	Visada

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Respiratory function loss	Kartais (5–29%)
Softening of voice box tissue	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Abnormality of immune system physiology	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SEMA3E and how often each is seen. Find out more at hpo.jax.org.

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