Trăsături

Trăsături asociate cu NEUROD2

neuronal differentiation 2

Human Phenotype Ontology asociază 75 trăsături cu NEUROD2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

NEUROD2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Degeneration of cerebrum	Întotdeauna
Delayed ability to sit	Întotdeauna
Delayed ability to walk	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Hypsarrhythmia	Întotdeauna
Infantile spasms	Întotdeauna
Epileptic encephalopathy	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Delayed CNS myelination	Des (30–79%)
Difficulty sleeping	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with burst suppression	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Hyperactive movements	Des (30–79%)
Inability to walk	Des (30–79%)
Increased reflexes	Des (30–79%)
Lethargy	Des (30–79%)
Periventricular white matter hyperintensities	Des (30–79%)
Poor eye contact	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
Diffuse white matter abnormalities	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Jerking	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Tremor	Uneori (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Uneori (5–29%)
Dystonia	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Rar (1–4%)
Cleft palate	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Sloping forehead	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Astigmatism	Des (30–79%)
Cerebral visual impairment	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Cross-eyed	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Poor head control	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Absent thumbnail	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Rar (1–4%)

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 NEUROD2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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