Trăsături

Trăsături asociate cu SYNGAP1

synaptic Ras GTPase activating protein 1

Human Phenotype Ontology asociază 119 trăsături cu SYNGAP1, 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
Global developmental delay	Întotdeauna
IQ between 34 and 49	Întotdeauna
Motor delay	Întotdeauna
Abnormality of pain sensation	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG with focal spike waves	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Generalized myoclonic-atonic seizure	Foarte des (80–99%)
Generalized-onset seizure	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Abnormal eating behavior	Des (30–79%)
Abnormal gait	Des (30–79%)
Abnormality of coordination	Des (30–79%)
Ataxia	Des (30–79%)
Attention deficit	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Des (30–79%)
Brain degeneration	Des (30–79%)
Brief seizures with staring spells	Des (30–79%)
Decreased reflex response	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Eating-induced seizure	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
EEG with polyspike wave complexes	Des (30–79%)
Epilepsy	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Incoordination	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
Lack of peer relationships	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
More active than typical	Des (30–79%)
Myoclonic absence seizure	Des (30–79%)
Poor speech	Des (30–79%)
Sudden loss of muscle tone	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal emotional state	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Abnormal subarachnoid space morphology	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Autism	Uneori (5–29%)
Brain imaging abnormality	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
EEG with generalized slow activity	Uneori (5–29%)
EEG with irregular generalized spike and wave complexes	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Interictal epileptiform activity	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Jerking	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Obsessive-compulsive trait	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Recurrent hand flapping	Uneori (5–29%)
Simple febrile seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Abnormal pyramidal sign	Rar (1–4%)
Epileptic encephalopathy	Rar (1–4%)
Repeated seizures without recovery between them	Rar (1–4%)
Seizure affecting one half of brain	Rar (1–4%)
EEG abnormality	Neînregistrat
Epileptic spasm	Neînregistrat
Language impairment	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Des (30–79%)
Abnormally small head	Des (30–79%)
Congenital muscular torticollis	Des (30–79%)
Drooling	Des (30–79%)
Wry neck	Des (30–79%)
Abnormal tongue physiology	Uneori (5–29%)
Decreased volume of lip	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%)
High palate	Uneori (5–29%)
Long face	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Triangular face	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Broad philtrum	Rar (1–4%)
Full lower lip	Rar (1–4%)
Long philtrum	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Prominent forehead	Rar (1–4%)
Thick nasal alae	Rar (1–4%)
Thin red part of the upper lip	Rar (1–4%)
Wide nasal bridge	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Deeply set eye	Uneori (5–29%)
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%)
Abnormally small eyeball	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

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 limbs

Trăsătură	Cât de frecvent apare
Postaxial polydactyly	Uneori (5–29%)
Increased muscle tone of arm or leg	Rar (1–4%)
Webbed fingers or toes	Rar (1–4%)

Abnormality of the digestive system

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

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Photosensitive skin	Uneori (5–29%)
Frontal balding	Rar (1–4%)
Premature skin wrinkling	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Anteverted ears	Uneori (5–29%)
Large ears	Uneori (5–29%)

Growth abnormality

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

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Abnormality of the genitourinary system

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

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 SYNGAP1 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