Pan186
Smith-Lemli-Opitz syndrome and its differential diagnosis, incl. Meckel-Gruber syndrome, Noonan syndrome, and Simpson-Golabi-Behmel syndrome and Pallister-Hall syndrome
Genes:
AHI1, ARL13B, B9D1, B9D2, BRAF,C5orf42, CBL, CC2D2A, CEP104, CEP290, CEP41, CSPP1, DHCR7, GLI3, GPC3, GPC4, HRAS, INPP5E, KIAA0556, KIAA0586, KIF7, KIF14, KRAS, LZTR1, MAPK1, MAP2K1, MAP2K2, MKS1, NF1, NPHP1, NPHP3, NRAS, OFD1, PDE6D, PTPN11, RAF1, RIT1, RPGRIP1L, SHOC2, SOS1, SOS2, SPRED1, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423