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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormally small head	Alati
Development of small head that was not present at birth	Alati
Long face	Alati
Mild microcephaly	Alati
Small head present at birth	Alati
Thin eyebrow	Alati
Abnormal facial shape	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Thin red part of the upper lip	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Arthrogryposis multiplex congenita	Alati
Funnel chest	Alati
Hunched back	Alati
Low muscle tone	Alati
Low muscle tone in trunk	Alati
Lower limb spasticity	Alati
Poorly developed skeletal musculature	Alati
Severely decreased muscle tone	Alati
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Double-Jointed	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Horizontal nystagmus	Alati
Visual impairment	Alati
Abnormally small eyeball	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Horizontal supranuclear gaze palsy	Mõnikord (5–29%)
Oculomotor apraxia	Mõnikord (5–29%)
Optic nerve hypoplasia	Mõnikord (5–29%)
Uncoordinated eye movement	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Club feet	Mõnikord (5–29%)
Curvature of little finger	Mõnikord (5–29%)
Webbed fingers or toes	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated creatinine	Alati
Fever	Alati
Increased lactate in body	Alati

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Caesarean section	Alati
Feet or buttocks of fetus positioned near opening of uterus	Alati

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Patent ductus arteriosus	Alati
Secundum atrial septal defect	Alati

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Large ears	Alati
Hearing impairment	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Sparse hair	Alati
Atypical nail growth	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Poor swallowing	Alati

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased circulating free T4 concentration	Sageli (30–79%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Apnea	Alati

Growth abnormality

Trait	Kui sageli seda täheldatakse
Prenatal growth deficiency	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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