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	Hvor ofte den forekommer
Global developmental delay	Alltid
Hypoplasia of the pons	Alltid
Intellectual disability	Alltid
Small brainstem	Alltid
Increased reflexes	Svært ofte (80–99 %)
Abnormal cerebral morphology	Ofte (30–79 %)
Abnormal cerebral white matter morphology	Ofte (30–79 %)
Ataxia	Ofte (30–79 %)
Autism spectrum disorder	Ofte (30–79 %)
Choreoathetosis	Ofte (30–79 %)
Jerking	Ofte (30–79 %)
Muscle twitch	Ofte (30–79 %)
Olivopontocerebellar hypoplasia	Ofte (30–79 %)
Underdevelopment of part of brain called corpus callosum	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Epilepsy	Noen ganger (5–29 %)
Involuntary movements	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Absent speech development	Ikke registrert
Degeneration of cerebrum	Ikke registrert
Small cerebellum	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Progressively abnormally small cranium	Svært ofte (80–99 %)
Abnormally small head	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Full upper lip	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Broad nasal tip	Noen ganger (5–29 %)
Deep philtrum	Noen ganger (5–29 %)
Depressed nasal bridge	Noen ganger (5–29 %)
Large forehead	Noen ganger (5–29 %)
Monobrow	Noen ganger (5–29 %)
Prominent brow	Noen ganger (5–29 %)
Tongue twitching	Noen ganger (5–29 %)
Upward slanting of the opening between the eyelids	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Ambiguous external genitalia	Svært ofte (80–99 %)
Undescended testes	Svært ofte (80–99 %)
Short penis	Ofte (30–79 %)
Abnormal scrotal rugation	Noen ganger (5–29 %)
Absent penis	Noen ganger (5–29 %)
Absent uterus	Noen ganger (5–29 %)
Enlarged clitoris	Noen ganger (5–29 %)
Gonadal dysgenesis	Noen ganger (5–29 %)
Microphallus	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Muscle degeneration	Alltid
Muscle weakness	Alltid
Spasticity and rigidity of muscles	Svært ofte (80–99 %)
Fatigable weakness of skeletal muscles	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Opisthotonus	Noen ganger (5–29 %)
Pigeon chest	Noen ganger (5–29 %)
Spastic paraplegia	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Oculomotor apraxia	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Large ears	Ofte (30–79 %)
Low-set ears	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Excessive hairiness	Noen ganger (5–29 %)
Patchy lightened skin	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Single transverse palmar crease	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Alltid

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Apnea	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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