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

Abnormality of head or neck

Trait	Hvor ofte det ses
Abnormally small head	Altid
Development of small head that was not present at birth	Altid
Long face	Altid
Mild microcephaly	Altid
Small head present at birth	Altid
Thin eyebrow	Altid
Abnormal facial shape	Nogle gange (5–29 %)
High palate	Nogle gange (5–29 %)
Little lower jaw	Nogle gange (5–29 %)
Thin red part of the upper lip	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Arthrogryposis multiplex congenita	Altid
Funnel chest	Altid
Hunched back	Altid
Low muscle tone	Altid
Low muscle tone in trunk	Altid
Lower limb spasticity	Altid
Poorly developed skeletal musculature	Altid
Severely decreased muscle tone	Altid
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Double-Jointed	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Horizontal nystagmus	Altid
Visual impairment	Altid
Abnormally small eyeball	Nogle gange (5–29 %)
Cross-eyed	Nogle gange (5–29 %)
Horizontal supranuclear gaze palsy	Nogle gange (5–29 %)
Oculomotor apraxia	Nogle gange (5–29 %)
Optic nerve hypoplasia	Nogle gange (5–29 %)
Uncoordinated eye movement	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Club feet	Nogle gange (5–29 %)
Curvature of little finger	Nogle gange (5–29 %)
Webbed fingers or toes	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated creatinine	Altid
Fever	Altid
Increased lactate in body	Altid

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Caesarean section	Altid
Feet or buttocks of fetus positioned near opening of uterus	Altid

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Patent ductus arteriosus	Altid
Secundum atrial septal defect	Altid

Abnormality of the ear

Trait	Hvor ofte det ses
Large ears	Altid
Hearing impairment	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Sparse hair	Altid
Atypical nail growth	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Poor swallowing	Altid

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Decreased circulating free T4 concentration	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Apnea	Altid

Growth abnormality

Trait	Hvor ofte det ses
Prenatal growth deficiency	Altid

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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