Intrauterine Wachstumsretardierung und Proportionierter Kleinwuchs
Zugehörige Erkrankungen
Intrauterine Wachstumsretardierung (IUWR) (zu klein fürs Gestationsalter (SGA))
Proportionierter Kleinwuchs ohne SGA
Nicht-zugehörige Erkrankungen:
Disproportionierter Kleinwuchs (z.b. Skelettdysplasien)
Gen-Panel (250 Gene)
ACAN, ACP5, ACTB, ACTG1, AGPS, AKT1, AKT3, AMMECR1, ANAPC1, ANKH, ANKRD11, ANO5, ARSE, ATR, ATRIP, ATRX, B3GALT6, B3GAT3, BCS1L, BLM, BMP2, BMP4, BMPR1A, BMPR1B, BRAF, BRCA2, BRIP1, BTK, CANT1, CBL, CCDC186, CCDC8, CDC45, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP57, CEP63, CHD7, CHST14, CHST3, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRIPT, CTSK, CUL7, DDR2, DHCR24, DHCR7, DLL3, DNA2, DOK7, DYM, DYNC2H1, EBP, EIF2AK3, EP300, EPHX1, ERCC4, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, EYA1, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FOXL2, FOXP4, GDF5, GH1, GHR, GHRH, GHRHR, GHSR, GLI2, GLI3, GNAS, GPC6, GPR161, HDAC8, HES7, HESX1, HMGA2, HRAS, HSPG2, ICK, IFT122, IFT140, IFT172, IFT80, IGF1, IGF1R, IGF2, IGFALS, IGFBP1, IGFBP3, IHH, INSR, INTS1, IRS1, KDM3B, KDM6A, KIF22, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LIG1, LIG4, LZTR1, MAP2K1, MAP2K2, MATN3, MCM5, MESP2, MMP13, MMP9, MSTO1, MTX2, NBAS, NBN, NEK1, NHLRC2, NIPBL, NKX3-2, NLRP2, NLRP5, NLRP7, NOTCH2, NPR2, NR5A1, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PADI6, PALB2, PAPPA2, PAPSS2, PCNT, PIK3CA, PIK3R1, PIK3R2, PITX2, PLAG1, PLK4, PNPLA6, POC1A, POU1F1, PPP1CB, PRKAR1A, PROKR2, PROP1, PTCH1, PTH1R, PTPN11, RAD21, RAF1, RAP1B, RAPSN, RASA1, RASA2, RBBP8, RIT1, RNPC3, RNU4ATAC, ROR2, RPL10, RPS6KA3, RRAS, RRAS2, RTTN, RUNX2, SAMD9, SH3PXD2B, SHH, SHOC2, SHOX, SHOX2, SIX3, SLC26A2, SLC35D1, SLC39A13, SLX4, SMARCAL1, SMC1A, SMC3, SOS1, SOS2, SOX2, SOX3, SOX9, SPRED1, SRCAP, STAT5B, SULF1, TBCE, TBX19, TBX3, TBX6, TGIF1, THRB, TOP3A, TRIM37, TRIP11, TRPS1, TRPV4, UBE2T, WDR35, WNT5A, WRN, XRCC4, ZFP57 und ZIC2.
