autosomal dominant non-syndromic intellectual disability44
ORPHA: 476126
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TRIO on chromosome 5p15.2
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant non-syndromic intellectual disability44, sourced from HPO and Orphanet clinical annotations.
Mild intellectual disabilityGlobal developmental delayPoor speechAbnormality of the dentitionFacial asymmetryMicrognathiaHigh foreheadSynophrysDental crowdingAtypical behaviorAutistic behaviorTapered fingerScoliosisRecurrent infections2-3 toe syndactylyFeeding difficulties in infancyPrimary microcephalyUrinary incontinenceHigh palateEpicanthusLong philtrumStrabismusAmblyopiaEruption failureAggressive behaviorCompulsive behaviorsMotor stereotypySelf-mutilationPectus excavatumAbnormality of the handSeizureSpecific learning disabilityTremorAbsent speechFailure to thriveComplete atrioventricular canal defectPes planusPoor suckGait ataxiaSleep disturbanceKyphosisHypercalcemiaShort noseClinodactyly of the 5th fingerShort palmSecondary microcephalyBorderline intellectual disabilityAttention deficit hyperactivity disorderCongenital ptosisPartial absence of thumbAplasia of the 1st metacarpalGastrostomy tube feeding in infancyUnilateral radial aplasiaChronic constipationSlanting of the palpebral fissure
Classification & Codes
Orphanet Code
ORPHA:476126autosomal dominant non-syndromic intellectual disability44
| Orphanet | ORPHA:476126 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO