| Erkrankung | Gen(e) |
|---|
| Branchiooto(renales) Syndrom | SIX1 EYA1 SIX5 |
| C Syndrom | CD96 |
| Cardiofaciocutanes Syndrom | BRAF KRAS MAP2K1 MAP2K2 |
| Cohen Syndrom | VPS13B |
| Cornelia de Lange Syndrom | NIPBL RAD21 CSPG6/SMC3 DXS423E/SMC1L1 HDAC8 |
| Costello Syndrom | HRAS |
| CRASH (MASA) Syndrom | L1CAM |
| Hypophysen-Hormon-Mangel | HESX1 POU1F1 PROP1 LHX3 LHX4 OTX2 |
| Ivemark Syndrom | GDF1 |
| Joubert Syndrom | AHI1 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 Syndrom | B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L TCTN2 TMEM216 TMEM231 TMEM67 |
| Opitz GBBB Syndrom | MID1 |
| Rasopathien | BRAF HRAS KRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11 RAF1 RIT1 SOS1 |
| Right atrial isomerism | GDF1 |
| Rubinstein-Taybi Syndrom | DEL16p13.3 CREBBP EP300 |
| Seckel Syndrom | ATR RBBP8 CENPJ CEP152 CEP6 NIN |
| Septooptische Dysplasie | HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1 |
| Silver-Russell Syndrom | 11p15 #7 |
| Simpson-Golabi-Behmel Syndrom | GPC3 GPC4 OFD1 |
| Smith-Lemli-Opitz Syndrom | DHCR7 |
| Smith-Magenis Syndrom | RAI1 17p11.2 |
| Townes-Brocks Syndrom | SALL1 |
| Treacher Collins Syndrom | TCOF1 POLR1D POLR1C |
| Trichorhinophalangeal Syndrom | TRPS1 8q24.1 |