Trăsături

Trăsături asociate cu CNTNAP2

contactin associated protein 2

Human Phenotype Ontology asociază 112 trăsături cu CNTNAP2, 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
Focal impaired awareness seizure	Întotdeauna
Grand mal seizures	Întotdeauna
Intellectual disability	Întotdeauna
Receptive language delay	Întotdeauna
Schizophrenia	Întotdeauna
Seizure affecting one half of brain	Întotdeauna
Abnormal neuron shape	Foarte des (80–99%)
Abnormality of neuronal migration	Foarte des (80–99%)
Attention deficit	Foarte des (80–99%)
Delayed ability to walk	Foarte des (80–99%)
Delayed motor skills	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Ataxia	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Bilateral tonic-clonic seizure with focal onset	Des (30–79%)
Cerebellar vermis hypoplasia	Des (30–79%)
Decreased reflex response	Des (30–79%)
EEG with generalized epileptiform discharges	Des (30–79%)
EEG with generalized polyspikes	Des (30–79%)
EEG with generalized slow activity	Des (30–79%)
Focal aware seizure	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
Interictal epileptiform activity	Des (30–79%)
Mental deterioration	Des (30–79%)
Motor delay	Des (30–79%)
Poor eye contact	Des (30–79%)
Poor speech	Des (30–79%)
Progressive language deterioration	Des (30–79%)
Repeated seizures without recovery between them	Des (30–79%)
Repetitive movements	Des (30–79%)
Small cerebellum	Des (30–79%)
Abnormal temper tantrums	Uneori (5–29%)
Absent reflexes	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Autism	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Cerebellar vermis atrophy	Uneori (5–29%)
Cerebral palsy	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
EEG with focal spikes	Uneori (5–29%)
Focal cortical dysplasia	Uneori (5–29%)
Focal impaired awareness emotional seizure with fear/anxiety/panic	Uneori (5–29%)
Generalized convulsive status epilepticus	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Low frustration tolerance	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Periventricular leukomalacia	Uneori (5–29%)
Reduced cerebral white matter volume	Uneori (5–29%)
Self-mutilation	Uneori (5–29%)
Skin-picking	Uneori (5–29%)
Stereotypical hand wringing	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Thin corpus callosum	Uneori (5–29%)
Tonic seizure	Uneori (5–29%)
Thick corpus callosum	Rar (1–4%)
Diminished deep tendon reflex	Neînregistrat
Generalized-onset seizure	Neînregistrat
Language impairment	Neînregistrat
Poor social interactions	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Abnormally small head	Des (30–79%)
Full lips	Des (30–79%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Short nose	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Big lower jaw	Rar (1–4%)
Broad forehead	Rar (1–4%)
Bulbous nose	Rar (1–4%)
Coarse facial features	Rar (1–4%)
Decreased size of tooth	Rar (1–4%)
Eye folds	Rar (1–4%)
High palate	Rar (1–4%)
Long eyelashes	Rar (1–4%)
Low frontal hairline	Rar (1–4%)
Low hanging columella	Rar (1–4%)
Monobrow	Rar (1–4%)
Prominent forehead	Rar (1–4%)
Protruding tongue	Rar (1–4%)
Short columella	Rar (1–4%)
Short philtrum	Rar (1–4%)
Tented mouth	Rar (1–4%)
Thin red part of the upper lip	Rar (1–4%)
Upward slanting of the opening between the eyelids	Rar (1–4%)
Widely spaced teeth	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Des (30–79%)
Enlarged liver	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
High-arched foot	Uneori (5–29%)
Preaxial polydactyly	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large earlobe	Rar (1–4%)
Large ears	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Intermittent overbreathing	Uneori (5–29%)
Rapid breathing	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Intraventricular hemorrhage	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Întotdeauna

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 CNTNAP2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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