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Kenmerken

Kenmerken gekoppeld aan TRIO

trio Rho guanine nucleotide exchange factor

De Human Phenotype Ontology koppelt 106 kenmerken aan TRIO, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Abnormal dentitionVaak (30–79%)
Abnormally small headVaak (30–79%)
Big calvariaVaak (30–79%)
Dental crowdingVaak (30–79%)
Facial asymmetryVaak (30–79%)
Frontal bossingVaak (30–79%)
Full lipsVaak (30–79%)
Fullness around the eyesVaak (30–79%)
High foreheadVaak (30–79%)
Little lower jawVaak (30–79%)
MonobrowVaak (30–79%)
Small head present at birthVaak (30–79%)
Bulbous noseSoms (5–29%)
Depressed nasal bridgeSoms (5–29%)
Development of small head that was not present at birthSoms (5–29%)
Downward slanting of the opening between the eyelidsSoms (5–29%)
Eye foldsSoms (5–29%)
Failure of development of more than six teethSoms (5–29%)
Failure of eruption of toothSoms (5–29%)
High palateSoms (5–29%)
Highly arched eyebrowSoms (5–29%)
Long philtrumSoms (5–29%)
Low frontal hairlineSoms (5–29%)
Low hanging columellaSoms (5–29%)
Midface retrusionSoms (5–29%)
Nasal tip, upturnedSoms (5–29%)
Prominent nasal bridgeSoms (5–29%)
Receding chinSoms (5–29%)
Short chinSoms (5–29%)
Short noseSoms (5–29%)
Short philtrumSoms (5–29%)
Slanting of the opening between the eyelidsSoms (5–29%)
Thick eyebrowSoms (5–29%)
Thin red part of the upper lipSoms (5–29%)
Underdeveloped tissue around nostrilSoms (5–29%)
Upward slanting of the opening between the eyelidsSoms (5–29%)
Wide mouthSoms (5–29%)
Wide nasal bridgeSoms (5–29%)

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Delayed ability to walkAltijd
Delayed speech and language developmentAltijd
Intellectual disabilityAltijd
Motor delayAltijd
Global developmental delayHeel vaak (80–99%)
Intellectual disability, mildHeel vaak (80–99%)
Poor speechHeel vaak (80–99%)
Aggressive behaviorVaak (30–79%)
Attention deficitVaak (30–79%)
Autism spectrum disorderVaak (30–79%)
Behavioral abnormalityVaak (30–79%)
EpilepsyVaak (30–79%)
Increased reflexesVaak (30–79%)
Obsessive-compulsive traitVaak (30–79%)
Repetitive movementsVaak (30–79%)
Absent speech developmentSoms (5–29%)
Delayed ability to sitSoms (5–29%)
Difficulty sleepingSoms (5–29%)
HyperacusisSoms (5–29%)
Inability to coordinate movements when walkingSoms (5–29%)
Intellectual disability, borderlineSoms (5–29%)
Obsessive compulsive behaviorSoms (5–29%)
Pain insensitivitySoms (5–29%)
Self-injurious behaviorSoms (5–29%)
Self-mutilationSoms (5–29%)
Specific learning disabilitySoms (5–29%)
TremorSoms (5–29%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Tapered fingerVaak (30–79%)
Webbed 2nd and 3rd toesVaak (30–79%)
Abnormality of the handSoms (5–29%)
Absent 1st long bone of handSoms (5–29%)
Curvature of little fingerSoms (5–29%)
Dropped archesSoms (5–29%)
Gap between 1st and 2nd toesSoms (5–29%)
Partial absence of thumbSoms (5–29%)
Short fingers or toesSoms (5–29%)
Short palmSoms (5–29%)
Single transverse palmar creaseSoms (5–29%)
Unilateral radial aplasiaSoms (5–29%)
Winged shoulder bladeSoms (5–29%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Chronic constipationVaak (30–79%)
Feeding difficultiesVaak (30–79%)
Feeding difficulties in infancyVaak (30–79%)
Poor swallowingVaak (30–79%)
Gastrostomy tube feeding in infancySoms (5–29%)
Poor suckSoms (5–29%)

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Congenital drooping upper eyelidSoms (5–29%)
Cross-eyedSoms (5–29%)
Drooping upper eyelidSoms (5–29%)
Lazy eyeSoms (5–29%)
Wide-set eyesSoms (5–29%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
An opening in the wall separating the top two chambers of the heartSoms (5–29%)
Complete atrioventricular canal defectSoms (5–29%)
Hole in heart wall separating two lower heart chambersSoms (5–29%)
Patent ductus arteriosusSoms (5–29%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Hunched backVaak (30–79%)
ScoliosisVaak (30–79%)
Funnel chestSoms (5–29%)
Low muscle toneSoms (5–29%)

Abnormality of the ear

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

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Excessive hairinessSoms (5–29%)
Frontal upsweep of hairSoms (5–29%)

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Loss of bladder controlSoms (5–29%)

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
Recurrent infectionsAltijd

Constitutional symptom

KenmerkHoe vaak het voorkomt
FatigueVaak (30–79%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Faltering weightSoms (5–29%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
High blood calcium levelsSoms (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 TRIO gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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