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	Cât de frecvent apare
Global developmental delay	Întotdeauna
Hypoplasia of the pons	Întotdeauna
Intellectual disability	Întotdeauna
Small brainstem	Întotdeauna
Increased reflexes	Foarte des (80–99%)
Abnormal cerebral morphology	Des (30–79%)
Abnormal cerebral white matter morphology	Des (30–79%)
Ataxia	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Choreoathetosis	Des (30–79%)
Jerking	Des (30–79%)
Muscle twitch	Des (30–79%)
Olivopontocerebellar hypoplasia	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Epilepsy	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Absent speech development	Neînregistrat
Degeneration of cerebrum	Neînregistrat
Small cerebellum	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Progressively abnormally small cranium	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Eye folds	Des (30–79%)
Full upper lip	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Broad nasal tip	Uneori (5–29%)
Deep philtrum	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Large forehead	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Prominent brow	Uneori (5–29%)
Tongue twitching	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Ambiguous external genitalia	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Short penis	Des (30–79%)
Abnormal scrotal rugation	Uneori (5–29%)
Absent penis	Uneori (5–29%)
Absent uterus	Uneori (5–29%)
Enlarged clitoris	Uneori (5–29%)
Gonadal dysgenesis	Uneori (5–29%)
Microphallus	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Muscle degeneration	Întotdeauna
Muscle weakness	Întotdeauna
Spasticity and rigidity of muscles	Foarte des (80–99%)
Fatigable weakness of skeletal muscles	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Opisthotonus	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Spastic paraplegia	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Oculomotor apraxia	Des (30–79%)
Optic atrophy	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Large ears	Des (30–79%)
Low-set ears	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Excessive hairiness	Uneori (5–29%)
Patchy lightened skin	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Single transverse palmar crease	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Întotdeauna

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Apnea	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 TOE1 and how often each is seen. Find out more at hpo.jax.org.

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