D.I. Autosomic Dominant. NGS of 68 gene panel: ARID1A, ARID1B, ASTN2, BEX4, BZRAP1, CACNG2, CADM1, CADPS2, CAMTA1, CDH15, CDH8, CDH9, CNTN4, CSMD1, CTCF, CTNNB1, DCP2, DIP2B, DLG1, DLG4, DOCK8, DYNC1H1, DYRK1A, EHMT1, EPB41L1, FOXP1, FOXP2, FXR1, GATAD2B, GLO1, GLRA3, GRIA1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GTF2I, HDAC4, IGF1R, KCNC3, KDM5B, KIF1A, KIRREL3, MBD5, MEF2C, NBEA, NCS1, NPTX2, NR1I3, NUFIP1, NUFIP2, OTX1, PACS1, QKI, RBFOX1, REST, SCN8A, SEMA5A, SMARCA4, SMARCB1, SNAP25, SRGAP3, STX1A, SYNGAP1, ZBTB18, ZC3H14, ZNF385B.

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Ref: LV2997 Categories: , , , , , , Diseases: Intellectual disabilityGenes: BZRAP1, ARID1B, DIP2B, HDAC4, DLG1, GTF2I, RBFOX1, MEF2C, CADPS2, NUFIP1, REST, EPB41L1, SMARCB1, ZC3H14, BEX4, CTCF, STX1A, NPTX2, DOCK8, NCS1, NUFIP2, QKI, SEMA5A, CDH9, FXR1, FOXP1, OTX1, KDM5B, ARID1A, GRIA2, GLO1, SMARCA4, FOXP2, CDH15, KIF1A, KCNC3, DLG4, SNAP25, IGF1R, NR1I3, GATAD2B, ZNF385B, CNTN4, GLRA3, ASTN2, KIRREL3, CDH8, GRIA4, GRIA1, DYRK1A, CACNG2, CTNNB1, CAMTA1, DCP2, NBEA, PACS1, GRIN1, ZBTB18, EHMT1, CADM1, CSMD1, GRIN2A, SRGAP3, SCN8A, DYNC1H1, SYNGAP1, MBD5, GRIN2BDelivery term: 42 days