autosomal dominant non-syndromic intellectual disability 7
ORPHA: 464306
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13
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 7, sourced from HPO and Orphanet clinical annotations.
MicrocephalyDelayed speech and language developmentIntellectual disabilityGlobal developmental delayGait disturbanceAbnormal facial shapeAcromesomeliaFeeding difficultiesVisual impairmentAtypical behaviorAutistic behaviorMotor stereotypyAnxietySeizureFailure to thriveIntrauterine growth retardationSmall for gestational ageVentriculomegalyFebrile seizure (within the age range of 3 months to 6 years)Poor speechPrimary microcephalyCryptorchidismNarrow foreheadMacrotiaProtruding earProminent nasal bridgeAstigmatismStrabismusDeeply set eyeHypermetropiaOptic disc pallorMyopiaExotropiaAmblyopiaHyperactivityArachnodactylyAortic regurgitationToe syndactylyVomitingGastroesophageal refluxHypoplasia of the corpus callosumCerebral cortical atrophyHypoplasia of the brainstemRecurrent infectionsMultiple joint contracturesClinodactyly of the 5th fingerCorneal opacityPolydactylyAnterior pituitary hypoplasiaSevere intellectual disabilityNarrow nasal tipHypospadiasMicropenisRenal cystUnilateral renal agenesisPelvic kidneyHydronephrosisPectus excavatumEczematoid dermatitisOligohydramniosVentricular septal defectPatent ductus arteriosusAortic valve stenosisHallux valgusPyloric stenosisDuodenal atresiaEnlarged cisterna magnaScoliosisKyphosisBreast hypoplasiaAbnormality of the cervical spineShort statureStructural foot deformity
Classification & Codes
Orphanet Code
ORPHA:464306autosomal dominant non-syndromic intellectual disability 7
| Orphanet | ORPHA:464306 |
| Treatments | 0 drug(s) |
| Symptoms on record | 73 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO