Traits

Traits linked to EEFSEC

eukaryotic elongation factor, selenocysteine-tRNA specific

The Human Phenotype Ontology links 72 traits to EEFSEC, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormality of the cerebellum	Visada
Cognitive impairment	Visada
Degeneration of cerebellum	Visada
Degeneration of cerebrum	Visada
Delayed speech and language development	Visada
Epilepsy	Visada
Episodic ataxia	Visada
Global developmental delay	Visada
Increased reflexes	Visada
Intellectual disability, severe	Visada
IQ between 34 and 49	Visada
Leg paralysis	Visada
Loss of developmental milestones	Visada
Motor delay	Visada
Paralysis of all four limbs	Visada
Peripheral neuropathy	Visada
Sensory axonal neuropathy	Visada
Small cerebellum	Visada
Thin corpus callosum	Visada
Focal impaired awareness seizure	Dažnai (30–79%)
Difficulty articulating speech	Kartais (5–29%)
Grand mal seizures	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Intention tremor	Kartais (5–29%)
Myoclonic seizure	Kartais (5–29%)
Repeated seizures without recovery between them	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Visada
Development of small head that was not present at birth	Visada
Long face	Visada
Mild microcephaly	Visada
Small head present at birth	Visada
Thin eyebrow	Visada
Abnormal facial shape	Kartais (5–29%)
High palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Arthrogryposis multiplex congenita	Visada
Funnel chest	Visada
Hunched back	Visada
Low muscle tone	Visada
Low muscle tone in trunk	Visada
Lower limb spasticity	Visada
Poorly developed skeletal musculature	Visada
Severely decreased muscle tone	Visada
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Double-Jointed	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Horizontal nystagmus	Visada
Visual impairment	Visada
Abnormally small eyeball	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Horizontal supranuclear gaze palsy	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Optic nerve hypoplasia	Kartais (5–29%)
Uncoordinated eye movement	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Club feet	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated creatinine	Visada
Fever	Visada
Increased lactate in body	Visada

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Caesarean section	Visada
Feet or buttocks of fetus positioned near opening of uterus	Visada

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Patent ductus arteriosus	Visada
Secundum atrial septal defect	Visada

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Large ears	Visada
Hearing impairment	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Sparse hair	Visada
Atypical nail growth	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Poor swallowing	Visada

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased circulating free T4 concentration	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Apnea	Visada

Growth abnormality

Trait	Kaip dažnai pasireiškia
Prenatal growth deficiency	Visada

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 EEFSEC and how often each is seen. Find out more at hpo.jax.org.

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