Özellikler

RHOBTB2 ile ilişkili özellikler

Rho related BTB domain containing 2

Human Phenotype Ontology, RHOBTB2 ile ilişkili 145 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

RHOBTB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the gastrointestinal tract	Çok sık (%80–99)
Gastrointestinal dysmotility	Çok sık (%80–99)
Abdominal bloating	Sık (%30–79)
Anorexia	Sık (%30–79)
Constipation	Sık (%30–79)
Diarrhea	Sık (%30–79)
Feeding difficulties	Sık (%30–79)
Oral-pharyngeal dysphagia	Sık (%30–79)
Poor suck	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Vomiting	Sık (%30–79)
Umbilical hernia	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Abnormal involuntary eye movements	Sık (%30–79)
Dilated pupil	Sık (%30–79)
Involuntary, rapid, rhythmic eye movements	Sık (%30–79)
Inward turning cross eyed	Sık (%30–79)
Outward facing eye ball	Sık (%30–79)
Deeply set eye	Bazen (%5–29)
Ocular flutter	Bazen (%5–29)
Oculomotor apraxia	Bazen (%5–29)
Cross-eyed	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Increased muscle tone of arm or leg	Sık (%30–79)
Skewfoot	Bazen (%5–29)
Broad finger	Seyrek (%1–4)
Short finger	Seyrek (%1–4)
Wide toe bones	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormal T-wave	Bazen (%5–29)
Cardiac conduction abnormality	Bazen (%5–29)
Abnormal heart rate	Seyrek (%1–4)
Disease of the heart muscle	Seyrek (%1–4)
Hole in heart wall separating two lower heart chambers	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone	Çok sık (%80–99)
Decreased muscle tone in infant	Sık (%30–79)
Poor head control	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Rigidity	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Flushing	Sık (%30–79)
Paleness	Sık (%30–79)
Excessive sweating	Bazen (%5–29)
Absent thumbnail	Seyrek (%1–4)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Renal dysplasia	Seyrek (%1–4)
Short penis	Seyrek (%1–4)
Ureterocele	Seyrek (%1–4)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Apnea	Bazen (%5–29)
Aspiration	Bazen (%5–29)
Breathing difficulties	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Large ears	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of puberty	Seyrek (%1–4)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Sık (%30–79)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Dehydration	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: RHOBTB2 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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