DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
ORPHA: 268261
Overview
human disease
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayGait disturbanceAbnormal facial shapeFeeding difficultiesBrain imaging abnormalityAbnormality of the genitourinary systemMicrocephalyProminent nasal bridgeAbnormality of the eyeTapered fingerSeizureAtaxiaAbsent speechIntrauterine growth retardationSmall for gestational ageFailure to thrive in infancyAbnormal foot morphologyAbnormal toe morphologyConstipationVentriculomegalyBroad-based gaitHypoplasia of the brainstemPoor speechCNS hypomyelinationShort stature2-4 toe cutaneous syndactylyPosterior pituitary hypoplasiaRecurrent urinary tract infectionsInguinal herniaCryptorchidismChordeeHypospadiasShawl scrotumUnilateral renal agenesisRetrognathiaProtruding earUnderdeveloped nasal alaeBroad nasal tipStrabismusDeeply set eyeCataractHypermetropiaMyopiaEsotropiaUpslanted palpebral fissureAggressive behaviorAutistic behaviorAnxietyPectus excavatumAbnormality of the endocrine systemHypertoniaOligohydramniosHallux valgusDysphagiaGastroesophageal refluxPyloric stenosisPoor suckBilateral tonic-clonic seizureHypoplasia of the corpus callosumCerebral cortical atrophyGeneralized myoclonic seizureGliosisSleep disturbanceFebrile seizure (within the age range of 3 months to 6 years)ScoliosisKyphosisShort noseAtonic seizureDilatation of the renal pelvisTypical absence seizureNasogastric tube feeding in infancyBroad chinShort 5th toeStereotypical hand wringingAbnormal optic chiasm morphologyMicropenisCleft soft palateHearing impairmentAstigmatismRetinal detachmentIris colobomaWidely spaced teethHypothyroidismDecreased response to growth hormone stimulation testSacral dimpleMild intellectual disabilityAbnormal heart morphologyVentricular septal defectAbnormal pulmonary valve morphologyAortic valve stenosisAortic regurgitationPremature thelarchePolydactylySupernumerary toothOsteochondrosisBreast aplasia
Classification & Codes
Orphanet Code
ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
| Orphanet | ORPHA:268261 |
| Treatments | 0 drug(s) |
| Symptoms on record | 97 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO