Tunnused

Geeniga SYNGAP1 seotud tunnused

synaptic Ras GTPase activating protein 1

Inimese fenotüübi ontoloogia seostab geeniga SYNGAP1 119 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormal facial shape	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Congenital muscular torticollis	Sageli (30–79%)
Drooling	Sageli (30–79%)
Wry neck	Sageli (30–79%)
Abnormal tongue physiology	Mõnikord (5–29%)
Decreased volume of lip	Mõnikord (5–29%)
Downward slanting of the opening between the eyelids	Mõnikord (5–29%)
Failure of development of between one and six teeth	Mõnikord (5–29%)
High forehead	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Long face	Mõnikord (5–29%)
Narrow mouth	Mõnikord (5–29%)
Triangular face	Mõnikord (5–29%)
Wide mouth	Mõnikord (5–29%)
Broad philtrum	Harva (1–4%)
Full lower lip	Harva (1–4%)
Long philtrum	Harva (1–4%)
Nasal tip, upturned	Harva (1–4%)
Prominent forehead	Harva (1–4%)
Thick nasal alae	Harva (1–4%)
Thin red part of the upper lip	Harva (1–4%)
Wide nasal bridge	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Sageli (30–79%)
Deeply set eye	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Abnormal involuntary eye movements	Harva (1–4%)
Abnormality of vision	Harva (1–4%)
Abnormally small eyeball	Harva (1–4%)
Optic atrophy	Harva (1–4%)
Retina degeneration	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Alati
Generalized decreased muscle tone	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Poor head control	Mõnikord (5–29%)
Rigidity	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Postaxial polydactyly	Mõnikord (5–29%)
Increased muscle tone of arm or leg	Harva (1–4%)
Webbed fingers or toes	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)
Feeding difficulties in infancy	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Photosensitive skin	Mõnikord (5–29%)
Frontal balding	Harva (1–4%)
Premature skin wrinkling	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Anteverted ears	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Short stature	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hypospadias	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SYNGAP1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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