Trăsături

Trăsături asociate cu RHOBTB2

Rho related BTB domain containing 2

Human Phenotype Ontology asociază 145 trăsături cu RHOBTB2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RHOBTB2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Epileptic encephalopathy	Foarte des (80–99%)
Episodic hemiplegia	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Abnormal autonomic nervous system physiology	Des (30–79%)
Absent speech development	Des (30–79%)
Ataxia	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Dystonia	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with burst suppression	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Hypsarrhythmia	Des (30–79%)
Inability to walk	Des (30–79%)
Increased reflexes	Des (30–79%)
Lethargy	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Paroxysmal dystonia	Des (30–79%)
Repeated seizures without recovery between them	Des (30–79%)
Repetitive movements	Des (30–79%)
Tetraparesis	Des (30–79%)
Abnormal pyramidal sign	Uneori (5–29%)
Absent reflexes	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Can't control feelings	Uneori (5–29%)
Chorea	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
Diffuse white matter abnormalities	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Headache	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Jerking	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Paroxysmal dyskinesia	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Teeth grinding	Uneori (5–29%)
Tremor	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Weakness of one side of body	Uneori (5–29%)
Worsening neurological symptoms	Uneori (5–29%)
Brain imaging abnormality	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Broad nasal tip	Uneori (5–29%)
Decreased facial muscle tone	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Exaggerated cupid's bow	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Full lower lip	Uneori (5–29%)
High forehead	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long eyelashes	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Low insertion of columella	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Thin eyebrow	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)
Cleft palate	Rar (1–4%)
Sloping forehead	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the gastrointestinal tract	Foarte des (80–99%)
Gastrointestinal dysmotility	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Anorexia	Des (30–79%)
Constipation	Des (30–79%)
Diarrhea	Des (30–79%)
Feeding difficulties	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Umbilical hernia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal involuntary eye movements	Des (30–79%)
Dilated pupil	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Deeply set eye	Uneori (5–29%)
Ocular flutter	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Cross-eyed	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	Des (30–79%)
Skewfoot	Uneori (5–29%)
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal T-wave	Uneori (5–29%)
Cardiac conduction abnormality	Uneori (5–29%)
Abnormal heart rate	Rar (1–4%)
Disease of the heart muscle	Rar (1–4%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Poor head control	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Rigidity	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Flushing	Des (30–79%)
Paleness	Des (30–79%)
Excessive sweating	Uneori (5–29%)
Absent thumbnail	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Uneori (5–29%)
Aspiration	Uneori (5–29%)
Breathing difficulties	Uneori (5–29%)

Abnormality of the ear

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

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Dehydration	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 RHOBTB2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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