Instruções

- Informação clínica do paciente. - Cópia da historia clínica familiar (se aplicável). - Enviar consentimento e questionário específico AARS, ABAT, ABCC8, ACY1, ADAR, ADRA2B, ADSL, ALDH4A1, ALDH5A1, ALDH7A1, ALG11, ALG13, AMT, AP1S2, AP4E1, ARFGEF2, ARG1, ARHGEF9, ARX, ASAH1, ASPM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATRX, AUH, BCKDHB, BCKDK, BCS1L, BRAF, BRAT1, BRWD3, BTD, C10orf2, C12orf57, CACNA1A, CACNA1H, CACNA2D1, CACNB4, CARS2, CASK, CASR, CBL, CDKL5, CERS1, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, COG6, COQ2, COQ4, COX6B1, CPA6, CPS1, CPT2, CSNK1G1, CSTB, CTSD, CTSF, CUL4B, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, D2HGDH, DCX, DEAF1, DENND5A, DEPDC5, DIAPH1, DKC1, DLD, DLG3, DNAJC5, DNAJC6, DNM1, DOCK6, DOCK7, DOLK, DYNC1H1, DYRK1A, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B5, EPHX1, EPM2A, ERMARD, FARS2, FASN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FTSJ1, FUCA1, GABBR1, GABBR2, GABRA1, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GAL, GAMT, GATM, GBA, GCK, GCSH, GDI1, GFAP, GK, GLB1, GLDC, GLRA1, GLRB, GLUL, GLYCTK, GNAO1, GOSR2, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP3, HAX1, HCN1, HCN3, HCN4, HEPACAM, HEXA, HNRNPU, HSD17B10, IER3IP1, IL1RAPL1, IQSEC2, ITPA, JMJD1C, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, KIF2A, KIF5C, KPNA7, LGI1, LIAS, LMNB2, MAGI2, MAOA, MAPK10, MBD5, MBTPS2, MCCC2, MDH2, MECP2, MED17, MFSD8, MOCS1, MOCS2, MTHFR, MTOR, MYO5A, NDUFA1, NDUFA2, NDUFAF3, NDUFAF6, NDUFV1, NECAP1, NEDD4L, NEU1, NGLY1, NHLRC1, NHS, NLGN3, NPC1, NPRL3, NRXN1, OPHN1, PACS1, PCDH19, PDHA1, PGK1, PIGA, PIGG, PIGN, PIGO, PIGQ, PIGT, PLCB1, PMM2, PNKD, PNKP, PNPO, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRRT2, PSAT1, PURA, QARS, RAB27A, RAB3GAP1, RANBP2, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RYR3, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, ERPINI1, SETD2, SGCE, SIK1, SLC12A1, SLC12A2, SLC12A5, SLC12A7, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SNAP25, SNIP1, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCE, TBL1XR1, TCF4, TNK2, TPK1, TPP1, TREX1, TSC1, TSC2, TUBB, TUBB2A, TUBB3, TUBG1, UBA5, UBE3A, VDAC1, WDR45, WWOX, ZDHHC9, ZEB2.