biostudies-literatureMeissner LEIntramural NIH HHSNICHD NIH HHSOffice of the DirectorMedical Research CouncilNational Institute for Health Research (NIHR)National Institutes of HealthNational Human Genome Research Institutee1544https://www.ebi.ac.uk/biostudies/studies/S-EPMC7767569biostudies-literatureUnknown8(12)<h4>Background</h4>DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due to the rarity of DYRK1A-Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined.<h4>Methods and results</h4>We present two unrelated cases of DYRK1A-Related Intellectual Disability Syndrome resulting from variants in DYRK1A. Both probands presented to the National Institutes of Health (NIH)Molecular genetics & genomic medicineDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.PMC7767569MC_U147585819ZIA HG000215MC_UP_A620_1014MC_UP_A620_1015U1475000001MC_U147585824MC_U147585827U1475000002P50 HD103525MC_UU_12011/2NF-SI-0513-10085G0400491MC_UU_12011/110/33/041ZIAHG000215‐17Dasari SZein WMCole FSUndiagnosed Diseases NetworkLiu XZEmrick LTSolem EWener MGutierrez IMurdock DRNovacic DMalicdan MCVSutton SLincoln SACunningham MAmendola LButte MJWalker MStoler JMBennet JBonner DMoretti PMWoods JDCooper CMWesseling Perry KLoo SKSmith ECHahn SChristopher Lau CCoakley TRPallais JCFieg ELPapp JCAcosta MTKelley EGChang TCPPosey JELanza IRYu GSilverman EKForghani IStong NDayal JGJarvik GPVogel TPAdams DRDeardorff MGropman ALDuncan LKrakow DZhao CByers PMartin MGAzamian MSBale JFisher PGFogel BLRenteria GGroden CASinsheimer JSLanpher BCScott DAMcCray ATPhillips JAWhitlock JFindley LCNewman JHSweetser DAKoziura MAdam MAlvey JTran AAMacnamara EFCarrasquillo OSigner RCobban LANickerson DBerg-Rood BPusey BNMarth GCogan JDSchaechter JWang LKNicholas SKBivona STabor HKSharma PWenger TBejerano GEstwick TDhar SUJarvik JCraigen WJMight MBoyd BKennedy JIsasi RTucker BMWangler MFKaraviti LPak SZuchner SBayrak-Toydemir PHisama FMMartin BAHayes NLongo NRosenfeld JAJamal FMao RLiu PSullivan KMamounas LAWallace SWambach JLalani SRDorrani NParker NHBlue EPalmer CGSSaporta MSillari CHOrengo JPThorson WTelischi FWheeler MTHing AHorike-Pyne MMartinez-Agosto JABamshad MTekin MEng CMD'Souza PHom JVezina GKravets EFresard LDraper DDNelson SFSmith KSSybert VKrasnewich DMWalsh CABohnsack JUrv TKTifft CJWan JBaldridge DLewis RAHolm IASacco RSolnica-Krezel LClark GDMarkello TCMcCauley JFerreira CRMcCormack CERodan LHByrd WEKohane ISNieves-Rodriguez SBeck ASamson SLPotocki LGrajewski ACrouse ABGlass IWegner DRon Scott CRives LCoggins MAndrews AKiley DKohler JNLee HShashi VBehrens ENath ABotto LAshley EADavids MBacino CAChanprasert SMajcherska MMAlejandro MEEckstein DJBarbouth DBriere LCFernandez LFerreira CQuinlan AKrier JBRuzhnikov MAgrawal PBMaravilla KBeggs AHMarwaha SNakano-Okuno MHuang YBonnenmann CHamid RZastrow DBReuter CMDai HRaja ANSpillmann RCSisco KSun AVanderver ABalasubramanyam ABurrage LCMorimoto MShin JBaker EBrown GSchoch KMarom RManolio TAToro CPace LLee BHChao HTEsteves CHuang AOglesbee DHanchard NAYang JVelinder MMcConkie-Rosell AMorava EMaduro VVYamamoto SViskochil DCarey JGoldman AMSampson JBLevitt RMerritt JLBademci GFalk MHigh FBernstein JABerry GTBican ABurke EABrokamp EGoldstein DBLam BLeBlanc KLam CWalley NMRobertson AKHassey KCope HWard PAMeissner LEEarl DMcGee EMacRae CAMefford HSullivan JADoherty DMirzaa GRosenwasser NMaas RLColley HAGahl WALoscalzo JMulvihill JJSchedl TJayadev SRao DADipple KMak BWolfe LAKorrick SRaskind WDell'Angelica ECJohnston JMGodfrey RATan QKWesterfield MDouine EDWahl CEGolden-Grant KTamburro CPfalseDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.<h4>Background</h4>DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due to the rarity of DYRK1A-Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined.<h4>Methods and results</h4>We present two unrelated cases of DYRK1A-Related Intellectual Disability Syndrome resulting from variants in DYRK1A. Both probands presented to the National Institutes of Health (NIH)2020-01-01T00:00:00Z2020 Dec2026-05-02T18:30:38.524Z2025-04-05T11:01:05.855ZS-EPMC77675693315971610.1002/mgg3.1544