intellectual disability syndrome due to a DYRK1A point mutation
ORPHA: 464311
Overview
human disease
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 intellectual disability syndrome due to a DYRK1A point mutation, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAtypical behaviorDelayed speech and language developmentIntellectual disabilityGlobal developmental delayAbnormal facial shapeFeeding difficultiesAbnormality of visionAutistic behaviorMotor stereotypyAnxietySeizureMotor delayGait disturbanceAbsent speechFailure to thriveIntrauterine growth retardationSmall for gestational ageVentriculomegalyCerebral cortical atrophyBirth length less than 3rd percentileAbnormal axial skeleton morphologyBrain imaging abnormalityNarrow foreheadProtruding earProminent nasal bridgeAstigmatismStrabismusDeeply set eyeHypermetropiaOptic disc pallorMyopiaExotropiaAmblyopiaPectus excavatumTapered fingerShort footShort toeVomitingGastroesophageal refluxHypoplasia of the corpus callosumAbnormal brainstem morphologyScoliosisRecurrent infectionsKyphosisAbnormality of the cervical spineAnkle flexion contractureAttention deficit hyperactivity disorderCorneal opacitySimple febrile seizurePosterior pituitary hypoplasiaFlexion contracture of fingerCryptorchidismHypospadiasMicropenisRenal cystUnilateral renal agenesisPelvic kidneyHydronephrosisRetinal detachmentPolyhydramniosOligohydramniosVentricular septal defectPatent ductus arteriosusAortic valve stenosisAortic regurgitationDuodenal atresiaAbnormality of neuronal migration
Classification & Codes
Orphanet Code
ORPHA:464311intellectual disability syndrome due to a DYRK1A point mutation
| Orphanet | ORPHA:464311 |
| Treatments | 0 drug(s) |
| Symptoms on record | 68 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO