Ga naar de inhoud
Gebruik uw HSA- of FSA-tegoed

Kenmerken

Kenmerken gekoppeld aan RHOBTB2

Rho related BTB domain containing 2

De Human Phenotype Ontology koppelt 145 kenmerken aan RHOBTB2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
EpilepsyAltijd
Global developmental delayAltijd
Intellectual disabilityAltijd
Epileptic encephalopathyHeel vaak (80–99%)
Episodic hemiplegiaHeel vaak (80–99%)
Focal motor seizureHeel vaak (80–99%)
Generalized myoclonic seizureHeel vaak (80–99%)
Abnormal autonomic nervous system physiologyVaak (30–79%)
Absent speech developmentVaak (30–79%)
AtaxiaVaak (30–79%)
Behavioral abnormalityVaak (30–79%)
Delayed speech and language developmentVaak (30–79%)
Difficulty sleepingVaak (30–79%)
DystoniaVaak (30–79%)
EEG abnormalityVaak (30–79%)
EEG with burst suppressionVaak (30–79%)
Focal tonic seizureVaak (30–79%)
HypsarrhythmiaVaak (30–79%)
Inability to walkVaak (30–79%)
Increased reflexesVaak (30–79%)
LethargyVaak (30–79%)
Loss of developmental milestonesVaak (30–79%)
Neurodevelopmental delayVaak (30–79%)
Paroxysmal dystoniaVaak (30–79%)
Repeated seizures without recovery between themVaak (30–79%)
Repetitive movementsVaak (30–79%)
TetraparesisVaak (30–79%)
Abnormal pyramidal signSoms (5–29%)
Absent reflexesSoms (5–29%)
Aggressive behaviorSoms (5–29%)
Autism spectrum disorderSoms (5–29%)
Brief seizures with staring spellsSoms (5–29%)
Bulbar signsSoms (5–29%)
Can't control feelingsSoms (5–29%)
ChoreaSoms (5–29%)
ChoreoathetosisSoms (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cellsSoms (5–29%)
Degeneration of cerebellumSoms (5–29%)
Delayed CNS myelinationSoms (5–29%)
Delayed myelinationSoms (5–29%)
Difficulty articulating speechSoms (5–29%)
Diffuse cerebral atrophySoms (5–29%)
Diffuse white matter abnormalitiesSoms (5–29%)
Disorder of involuntary muscle movementsSoms (5–29%)
EEG with spike-wave complexesSoms (5–29%)
Episodic ataxiaSoms (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)Soms (5–29%)
Fewer and broader ridges in brainSoms (5–29%)
Generalized clonic seizureSoms (5–29%)
Generalized tonic seizureSoms (5–29%)
Grand mal seizuresSoms (5–29%)
HeadacheSoms (5–29%)
ImpulsivitySoms (5–29%)
Infantile spasmsSoms (5–29%)
JerkingSoms (5–29%)
More active than typicalSoms (5–29%)
Paroxysmal dyskinesiaSoms (5–29%)
Seizure affecting one half of brainSoms (5–29%)
Self-injurious behaviorSoms (5–29%)
Small cerebellumSoms (5–29%)
Sudden loss of muscle toneSoms (5–29%)
Teeth grindingSoms (5–29%)
TremorSoms (5–29%)
Underdevelopment of part of brain called corpus callosumSoms (5–29%)
Uni- and bilateral multifocal epileptiform dischargesSoms (5–29%)
VentriculomegalySoms (5–29%)
Weakness of one side of bodySoms (5–29%)
Worsening neurological symptomsSoms (5–29%)
Brain imaging abnormalityNiet vastgelegd

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Abnormally small headVaak (30–79%)
Broad nasal tipSoms (5–29%)
Decreased facial muscle toneSoms (5–29%)
Depressed nasal bridgeSoms (5–29%)
Downturned corners of mouthSoms (5–29%)
Exaggerated cupid's bowSoms (5–29%)
Eye foldsSoms (5–29%)
Full lower lipSoms (5–29%)
High foreheadSoms (5–29%)
Highly arched eyebrowSoms (5–29%)
Little lower jawSoms (5–29%)
Long eyelashesSoms (5–29%)
Long philtrumSoms (5–29%)
Long, narrow headSoms (5–29%)
Low frontal hairlineSoms (5–29%)
Low insertion of columellaSoms (5–29%)
Nasal tip, upturnedSoms (5–29%)
Smooth philtrumSoms (5–29%)
Sparse eyebrowSoms (5–29%)
Thick eyebrowSoms (5–29%)
Thin eyebrowSoms (5–29%)
Thin red part of the upper lipSoms (5–29%)
Widely spaced teethSoms (5–29%)
Cleft palateZelden (1–4%)
Sloping foreheadZelden (1–4%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Abnormality of the gastrointestinal tractHeel vaak (80–99%)
Gastrointestinal dysmotilityHeel vaak (80–99%)
Abdominal bloatingVaak (30–79%)
AnorexiaVaak (30–79%)
ConstipationVaak (30–79%)
DiarrheaVaak (30–79%)
Feeding difficultiesVaak (30–79%)
Oral-pharyngeal dysphagiaVaak (30–79%)
Poor suckVaak (30–79%)
Poor swallowingVaak (30–79%)
VomitingVaak (30–79%)
Umbilical herniaZelden (1–4%)

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Abnormal involuntary eye movementsVaak (30–79%)
Dilated pupilVaak (30–79%)
Involuntary, rapid, rhythmic eye movementsVaak (30–79%)
Inward turning cross eyedVaak (30–79%)
Outward facing eye ballVaak (30–79%)
Deeply set eyeSoms (5–29%)
Ocular flutterSoms (5–29%)
Oculomotor apraxiaSoms (5–29%)
Cross-eyedZelden (1–4%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Increased muscle tone of arm or legVaak (30–79%)
SkewfootSoms (5–29%)
Broad fingerZelden (1–4%)
Short fingerZelden (1–4%)
Wide toe bonesZelden (1–4%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Abnormal T-waveSoms (5–29%)
Cardiac conduction abnormalitySoms (5–29%)
Abnormal heart rateZelden (1–4%)
Disease of the heart muscleZelden (1–4%)
Hole in heart wall separating two lower heart chambersZelden (1–4%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Low muscle toneHeel vaak (80–99%)
Decreased muscle tone in infantVaak (30–79%)
Poor head controlVaak (30–79%)
Involuntary muscle stiffness, contraction, or spasmSoms (5–29%)
RigiditySoms (5–29%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
FlushingVaak (30–79%)
PalenessVaak (30–79%)
Excessive sweatingSoms (5–29%)
Absent thumbnailZelden (1–4%)

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Renal dysplasiaZelden (1–4%)
Short penisZelden (1–4%)
UreteroceleZelden (1–4%)

Abnormality of the respiratory system

KenmerkHoe vaak het voorkomt
ApneaSoms (5–29%)
AspirationSoms (5–29%)
Breathing difficultiesSoms (5–29%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Large earsSoms (5–29%)

Abnormality of the endocrine system

KenmerkHoe vaak het voorkomt
Early onset of pubertyZelden (1–4%)

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
Recurrent respiratory infectionsVaak (30–79%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Faltering weightVaak (30–79%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
DehydrationSoms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

  • De Human Phenotype Ontology, versie 2026-09-01: de aan RHOBTB2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

Eén test. Een leven lang antwoorden.

Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken

Mijn Genome Test bestellen