Tunnused

Geeniga ELFN1 seotud tunnused

extracellular leucine rich repeat and fibronectin type III domain containing 1

Inimese fenotüübi ontoloogia seostab geeniga ELFN1 99 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Axial dystonia	Alati
Babinski sign	Alati
Delayed CNS myelination	Alati
Delayed speech and language development	Alati
EEG with burst suppression	Alati
EEG with focal slow activity	Alati
Generalized-onset motor seizure	Alati
Intellectual disability, severe	Alati
Interictal EEG abnormality	Alati
Lack of coordination of movement	Alati
Leg paralysis	Alati
Mild global developmental delay	Alati
Moderate global developmental delay	Alati
Motor seizure	Alati
Repetitive movements	Alati
Self-mutilation	Alati
Severe global developmental delay	Alati
Delayed ability to walk	Väga sageli (80–99%)
Abnormality of balance	Sageli (30–79%)
Attention deficit	Sageli (30–79%)
Autism spectrum disorder	Sageli (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Sageli (30–79%)
Clonus	Sageli (30–79%)
Delayed ability to sit	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Generalized clonic seizure	Sageli (30–79%)
Inability to walk	Sageli (30–79%)
Reduced cerebral white matter volume	Sageli (30–79%)
Thin corpus callosum	Sageli (30–79%)
Tonic seizure	Sageli (30–79%)
Unsteady walk	Sageli (30–79%)
Absent reflexes	Mõnikord (5–29%)
Epileptic spasm	Mõnikord (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Mõnikord (5–29%)
Generalized-onset seizure	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Myoclonic seizure	Mõnikord (5–29%)
Repeated seizures without recovery between them	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Broad chin	Alati
Coarse facial features	Alati
Decreased facial muscle tone	Alati
Depressed nasal bridge	Alati
Drooling	Alati
Drooping lower lip	Alati
Eye folds	Alati
Full lower lip	Alati
High frontal hairline	Alati
Long face	Alati
Long philtrum	Alati
Monobrow	Alati
Narrow forehead	Alati
Pointed chin	Alati
Prominent forehead	Alati
Receding chin	Alati
Short columella	Alati
Short philtrum	Alati
Small head present at birth	Alati
Smooth philtrum	Alati
Sparse eyebrow	Alati
Tented mouth	Alati
Triangular face	Alati
Upward slanting of the opening between the eyelids	Alati
Wide mouth	Alati
Prominent nasal bridge	Väga sageli (80–99%)
Thin red part of the upper lip	Sageli (30–79%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Double-Jointed	Alati
EMG: positive sharp waves	Alati
Generalized decreased muscle tone	Alati
Limb contractures	Alati
Low muscle tone in trunk	Alati
Poor head control	Alati
Spastic tetraparesis	Alati
Appendicular spasticity	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Muscle degeneration	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Deeply set eye	Alati
Wide-set eyes	Alati
Cross-eyed	Sageli (30–79%)
Cerebral visual impairment	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Front half of foot turns inward	Alati
Gap between 1st and 2nd toes	Alati
Long fingers	Alati
Short fingers or toes	Alati
Tapered finger	Alati

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Poor swallowing	Alati
Acid reflux	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Sageli (30–79%)
Short stature	Sageli (30–79%)
Faltering weight	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large ears	Alati

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent pneumonia	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hair growth	Alati

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Impairment of activities of daily living	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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ELFN1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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