Kjennetegn

Kjennetegn knyttet til RHOBTB2

Rho related BTB domain containing 2

Human Phenotype Ontology knytter 145 kjennetegn til RHOBTB2, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

RHOBTB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the gastrointestinal tract	Svært ofte (80–99 %)
Gastrointestinal dysmotility	Svært ofte (80–99 %)
Abdominal bloating	Ofte (30–79 %)
Anorexia	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Oral-pharyngeal dysphagia	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Umbilical hernia	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Abnormal involuntary eye movements	Ofte (30–79 %)
Dilated pupil	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Inward turning cross eyed	Ofte (30–79 %)
Outward facing eye ball	Ofte (30–79 %)
Deeply set eye	Noen ganger (5–29 %)
Ocular flutter	Noen ganger (5–29 %)
Oculomotor apraxia	Noen ganger (5–29 %)
Cross-eyed	Sjelden (1–4%)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Increased muscle tone of arm or leg	Ofte (30–79 %)
Skewfoot	Noen ganger (5–29 %)
Broad finger	Sjelden (1–4%)
Short finger	Sjelden (1–4%)
Wide toe bones	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormal T-wave	Noen ganger (5–29 %)
Cardiac conduction abnormality	Noen ganger (5–29 %)
Abnormal heart rate	Sjelden (1–4%)
Disease of the heart muscle	Sjelden (1–4%)
Hole in heart wall separating two lower heart chambers	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Low muscle tone	Svært ofte (80–99 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Noen ganger (5–29 %)
Rigidity	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Flushing	Ofte (30–79 %)
Paleness	Ofte (30–79 %)
Excessive sweating	Noen ganger (5–29 %)
Absent thumbnail	Sjelden (1–4%)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Renal dysplasia	Sjelden (1–4%)
Short penis	Sjelden (1–4%)
Ureterocele	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Apnea	Noen ganger (5–29 %)
Aspiration	Noen ganger (5–29 %)
Breathing difficulties	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Large ears	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of puberty	Sjelden (1–4%)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent respiratory infections	Ofte (30–79 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Dehydration	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til RHOBTB2 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test