autosomal dominant non-syndromic intellectual disability 32
ORPHA: 457193
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KAT6A on chromosome 8p11.21
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 32, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionMicrocephalyNarrow foreheadProminent nasal bridgeBroad nasal tipGlobal developmental delayNeonatal hypotoniaAbnormal facial shapePoor speechSevere intellectual disabilityEpicanthusMicroretrognathiaPosteriorly rotated earsStrabismusPtosisSeizurePlagiocephalyCraniosynostosisGrowth delayVentricular septal defectAtrial septal defectPatent ductus arteriosusGastroesophageal refluxNeonatal respiratory distressDownturned corners of mouthMuscle stiffnessShort statureFeeding difficultiesCerebral visual impairmentCryptorchidismHydronephrosisCleft palateOptic atrophyBrachydactylyDystoniaLaryngomalaciaIntestinal malrotationPreauricular pitLacrimal duct stenosis
Classification & Codes
Orphanet Code
ORPHA:457193autosomal dominant non-syndromic intellectual disability 32
| Orphanet | ORPHA:457193 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO