Trăsături

Trăsături asociate cu RELN

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Human Phenotype Ontology asociază 74 trăsături cu RELN, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Fewer or absent grooves in brain	Întotdeauna
Global developmental delay	Întotdeauna
Grand mal seizures	Întotdeauna
4-layered lissencephaly	Foarte des (80–99%)
EEG with focal epileptiform discharges	Foarte des (80–99%)
Hallucinations of sound	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Microlissencephaly	Foarte des (80–99%)
Seizure affecting one half of brain	Foarte des (80–99%)
Bilateral tonic-clonic seizure with focal onset	Des (30–79%)
Difficulty finding words	Des (30–79%)
Epilepsy	Des (30–79%)
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	Des (30–79%)
Focal aware seizure	Des (30–79%)
Focal aware sensory seizure with auditory features	Des (30–79%)
Focal impaired awareness seizure	Des (30–79%)
Focal sensory seizure with auditory features	Des (30–79%)
Interictal epileptiform activity	Des (30–79%)
Profound global developmental delay	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Abnormal autonomic nervous system physiology	Uneori (5–29%)
Abnormality of neuronal migration	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Deja vu	Uneori (5–29%)
Focal automatism seizure	Uneori (5–29%)
Focal autonomic seizure	Uneori (5–29%)
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	Uneori (5–29%)
Focal clonic seizure	Uneori (5–29%)
Focal sensory seizure with cephalic sensation	Uneori (5–29%)
Focal sensory seizure with vestibular features	Uneori (5–29%)
Focal sensory seizure with visual features	Uneori (5–29%)
Nocturnal seizures	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Visual hallucinations	Uneori (5–29%)
Behavioral abnormality	Rar (1–4%)
Depression	Rar (1–4%)
Generalized-onset seizure	Rar (1–4%)
Impulsivity	Rar (1–4%)
Migraine	Rar (1–4%)
Brain imaging abnormality	Neînregistrat
Hypoplasia of the pons	Neînregistrat
Small cerebellum	Neînregistrat
Thick cerebral cortex	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Small head present at birth	Foarte des (80–99%)
Abnormality of cranium	Des (30–79%)
Narrow forehead	Des (30–79%)
Prominent back of the head	Des (30–79%)
Sloping forehead	Des (30–79%)
Small forehead	Des (30–79%)
Small retruded chin	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Wide nose	Des (30–79%)
Focal sensory seizure with olfactory features	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Abnormally small head	Neînregistrat
Prominent nasal bridge	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Underdeveloped spleen	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Abnormal muscle tone	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Inward turned thumb	Uneori (5–29%)
Rocker bottom foot	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Poor swallowing	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Retina issue	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Swelling caused by excess lymph fluid under skin	Neînregistrat

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu RELN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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