Trăsături

Trăsături asociate cu SZT2

SZT2 subunit of KICSTOR complex

Human Phenotype Ontology asociază 65 trăsături cu SZT2, 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
Profound global developmental delay	Întotdeauna
Encephalopathy	Foarte des (80–99%)
Abnormality of coordination	Des (30–79%)
Absent speech development	Des (30–79%)
Atypical absence seizure	Des (30–79%)
Bilateral tonic-clonic seizure with focal onset	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed speech and language development	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
Epilepsy	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Tonic seizure	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Jerking	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Repeated seizures without recovery between them	Rar (1–4%)
Brief seizures with staring spells	Neînregistrat
EEG abnormality	Neînregistrat
Epileptic encephalopathy	Neînregistrat
Generalized-onset seizure	Neînregistrat
Seizure affecting one half of brain	Neînregistrat
Thick corpus callosum	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)
Highly arched eyebrow	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Rigidity	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)
Low levels of amniotic fluid	Des (30–79%)
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Aortic regurgitation	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	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 SZT2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu