Trăsături

Trăsături asociate cu SRPX2

sushi repeat containing protein X-linked 2

Human Phenotype Ontology asociază 77 trăsături cu SRPX2, 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
Abnormality of neuronal migration	Foarte des (80–99%)
Bilateral perisylvian polymicrogyria	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG with centrotemporal focal spike waves	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Speech apraxia	Foarte des (80–99%)
Bilateral tonic-clonic seizure with focal onset	Des (30–79%)
Continuous spike and waves during slow sleep	Des (30–79%)
EEG with central focal spikes	Des (30–79%)
EEG with focal sharp waves	Des (30–79%)
EEG with generalized epileptiform discharges	Des (30–79%)
EEG with parietal focal spikes	Des (30–79%)
EEG with polyspike wave complexes	Des (30–79%)
Focal hemifacial clonic seizure	Des (30–79%)
Global developmental delay	Des (30–79%)
Increased reflexes	Des (30–79%)
Intellectual disability	Des (30–79%)
Language impairment	Des (30–79%)
Pauses in breathing while sleeping	Des (30–79%)
Perisylvian predominant thick cortex pachygyria	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Specific learning disability	Des (30–79%)
Speech articulation difficulties	Des (30–79%)
Abnormal prosody	Uneori (5–29%)
Abnormally low-pitched voice	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Cerebellar dysplasia	Uneori (5–29%)
Cerebellar vermis hypoplasia	Uneori (5–29%)
Depression	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Dysesthesia	Uneori (5–29%)
EEG with frontal focal spikes	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Focal sensory seizure	Uneori (5–29%)
Incomprehensible speech	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Intellectual disability, borderline	Uneori (5–29%)
Lack of coordination of movement	Uneori (5–29%)
Migraine	Uneori (5–29%)
Oromotor apraxia	Uneori (5–29%)
Partial paralysis of legs	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Atypical absence seizure	Rar (1–4%)
EEG with irregular generalized spike and wave complexes	Rar (1–4%)
Intellectual disability, mild	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Drooling	Des (30–79%)
Weakness of facial musculature	Des (30–79%)
Abnormality of masticatory muscle	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Protruding tongue	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Distal arthrogryposis	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Funnel chest	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Spastic tetraplegia	Uneori (5–29%)

Abnormality of the digestive system

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

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Laryngospasm	Des (30–79%)
Apnea	Uneori (5–29%)
Aspiration	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	Uneori (5–29%)

Abnormality of the ear

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

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Ectopic posterior pituitary	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of the voice

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

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	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 SRPX2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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