autosomal dominant non-syndromic intellectual disability 26
ORPHA: 352490
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22
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 disability 26, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityAbnormal facial shapeNarrow mouthMicrocephalyEpicanthusHypertelorismShort philtrumMicrognathiaLow-set earsWide nasal bridgeStrabismusProptosisCompulsive behaviorsAutistic behaviorMotor stereotypyGlobal developmental delayGeneralized hypotoniaSpecific learning disabilityBilateral ptosisSmall for gestational ageHighly arched eyebrowShort statureRepetitive compulsive behaviorFeeding difficulties in infancyShort palpebral fissureAuditory sensitivityInguinal herniaCryptorchidismRetrognathiaAnteverted naresUpslanted palpebral fissureHyperactivityEczematoid dermatitisSeizureSpasticityHypertoniaHyperreflexiaUmbilical herniaAbnormal heart morphologyAtrial septal defectAbnormal foot morphologyScoliosisCongenital contractureArthrogryposis multiplex congenitaKyphosisNarrow palmProminent nasal tipDecreased palmar creasesAttention deficit hyperactivity disorderJoint contracture of the 5th fingerJoint contracture of the handAbnormal brain morphologyCerebral palsyPeriauricular skin pits
Classification & Codes
Orphanet Code
ORPHA:352490autosomal dominant non-syndromic intellectual disability 26
| Orphanet | ORPHA:352490 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO