ErkrankungGen(e)
Branchiooto(renales) SyndromSIX1 EYA1 SIX5
C Syndrom CD96
Cardiofaciocutanes SyndromBRAF KRAS MAP2K1 MAP2K2
Cohen Syndrom VPS13B
Cornelia de Lange SyndromNIPBL RAD21 CSPG6/SMC3 DXS423E/SMC1L1 HDAC8
Costello Syndrom HRAS
CRASH (MASA) Syndrom L1CAM
Hypophysen-Hormon-MangelHESX1 POU1F1 PROP1 LHX3 LHX4 OTX2
Ivemark Syndrom GDF1
Joubert SyndromAHI1 ARL13B C5orf42 CC2D2A CEP290 CEP41 CSPP1 INPP5E KIF7 NPHP1 OFD1 PDE6D RPGRIP1L TCTN1 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 ZNF423
Legius syndrome SPRED1
Lissenzephalie (Miller-Dieker S.)APOC3 PAFAH1B1 RELN TUBA1A LAMB1 DCX ARX MDLS
Meckel SyndromB9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L TCTN2 TMEM216 TMEM231 TMEM67
Opitz GBBB Syndrom MID1
RasopathienBRAF HRAS KRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11 RAF1 RIT1 SOS1
Right atrial isomerism GDF1
Rubinstein-Taybi SyndromDEL16p13.3 CREBBP EP300
Seckel SyndromATR RBBP8 CENPJ CEP152 CEP6 NIN
Septooptische DysplasieHESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
Silver-Russell Syndrom11p15 #7
Simpson-Golabi-Behmel SyndromGPC3 GPC4 OFD1
Smith-Lemli-Opitz Syndrom DHCR7
Smith-Magenis SyndromRAI1 17p11.2
Townes-Brocks Syndrom SALL1
Treacher Collins SyndromTCOF1 POLR1D POLR1C
Trichorhinophalangeal SyndromTRPS1 8q24.1