Kabuki Syndrom

KDM6A, KMT2D (MLL2)

Kagami-Ogata-Syndrom (KOS14)

Methylierungssensitive MLPA 14q32.2

CHD7, FGF8, FGFR1, KAL1, PROK2, PROKR2

BRAF, KRAS, MAP2K1, MAP2K2

CALM1, CASQ2, KCNJ2, RYR2, TRDN

ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ5, KCNQ1, PKP2, SCN1B, SCN4B, SCN5A, SNTA1, TRPM4

MT-TL2

ACAN, ALPL, FGFR3, GH1, GHRH, HESX1, IGF1, IGF1R, IGF2, IGFALS, LHX4, NPR2, POU1F1, PROP1, SHOX

APC, BMPR1A, EPCAM (CNV), GREM1 (CNV), MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

ANKH

FGFR1, FGFR2, FGFR3, MSX2, TWIST1

SLC6A8