Traits

Traits linked to TOE1

target of EGR1, exonuclease

The Human Phenotype Ontology links 64 traits to TOE1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Global developmental delay	Visada
Hypoplasia of the pons	Visada
Intellectual disability	Visada
Small brainstem	Visada
Increased reflexes	Labai dažnai (80–99%)
Abnormal cerebral morphology	Dažnai (30–79%)
Abnormal cerebral white matter morphology	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Choreoathetosis	Dažnai (30–79%)
Jerking	Dažnai (30–79%)
Muscle twitch	Dažnai (30–79%)
Olivopontocerebellar hypoplasia	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Epilepsy	Kartais (5–29%)
Involuntary movements	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Absent speech development	Neužfiksuota
Degeneration of cerebrum	Neužfiksuota
Small cerebellum	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Progressively abnormally small cranium	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Full upper lip	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Broad nasal tip	Kartais (5–29%)
Deep philtrum	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Large forehead	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Prominent brow	Kartais (5–29%)
Tongue twitching	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Ambiguous external genitalia	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Short penis	Dažnai (30–79%)
Abnormal scrotal rugation	Kartais (5–29%)
Absent penis	Kartais (5–29%)
Absent uterus	Kartais (5–29%)
Enlarged clitoris	Kartais (5–29%)
Gonadal dysgenesis	Kartais (5–29%)
Microphallus	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Muscle degeneration	Visada
Muscle weakness	Visada
Spasticity and rigidity of muscles	Labai dažnai (80–99%)
Fatigable weakness of skeletal muscles	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Opisthotonus	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)
Spastic paraplegia	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Oculomotor apraxia	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Large ears	Dažnai (30–79%)
Low-set ears	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Excessive hairiness	Kartais (5–29%)
Patchy lightened skin	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Single transverse palmar crease	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Visada

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Apnea	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 TOE1 and how often each is seen. Find out more at hpo.jax.org.

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