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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Trait	Hvor ofte den forekommer
Horizontal nystagmus	Alltid
Visual impairment	Alltid
Abnormally small eyeball	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Horizontal supranuclear gaze palsy	Noen ganger (5–29 %)
Oculomotor apraxia	Noen ganger (5–29 %)
Optic nerve hypoplasia	Noen ganger (5–29 %)
Uncoordinated eye movement	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Club feet	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Webbed fingers or toes	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated creatinine	Alltid
Fever	Alltid
Increased lactate in body	Alltid

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Caesarean section	Alltid
Feet or buttocks of fetus positioned near opening of uterus	Alltid

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Patent ductus arteriosus	Alltid
Secundum atrial septal defect	Alltid

Abnormality of the ear

Trait	Hvor ofte den forekommer
Large ears	Alltid
Hearing impairment	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Sparse hair	Alltid
Atypical nail growth	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Poor swallowing	Alltid

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased circulating free T4 concentration	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Apnea	Alltid

Growth abnormality

Trait	Hvor ofte den forekommer
Prenatal growth deficiency	Alltid

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

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