| OSD |
Alagille 2 |
NOTCH2 |
OMIM: 610205 |
(McDaniell et al., 2006) |
| Axenfield-Rieger |
PITX2 |
OMIM: 602482 |
(Cunningham et al., 1998; Zetterqvist et al., 1971) |
| Cardio-facio-cutaneous |
KRAS, BRAF, MEK1, MEK2 |
OMIM: 115150 |
(Armour and Allanson, 2008; Niihori et al., 2006; Reynolds et al., 1986) |
| Fryns |
|
OMIM: 229850 |
(Bamforth et al., 1989; Lin et al., 2005) |
| Holt-Oram |
TBX5 |
OMIM: 142900 |
(Glauser et al., 1989; Holt and Oram, 1960; Newbury-Ecob et al., 1996; Sletten and Pierpont, 1996; Smith et al., 1979; Terrett et al., 1994) |
| Ivemark |
|
OMIM: 208530 |
(Calabro et al., 1988; Moller et al., 1967) |
| Noonan |
PTPN11 |
OMIM: 163950 |
(Burch et al., 1993; Croonen et al., 2008; Sznajer et al., 2007) |
| Ritscher-Schinzel |
|
OMIM: 220210 |
(Orstavik et al., 1998) |
| Rubinstein-Taybi |
CREBBP, EP300 |
OMIM: 180849 |
(Stevens and Bhakta, 1995) |
| Patau |
Ts13 |
|
(Musewe et al., 1990) |
| AVSD |
CHARGE |
CHD7 |
OMIM: 214800 |
(Issekutz et al., 2005) |
| Down |
Ts21 |
OMIM: 190685 |
(Freeman et al., 1998; Park et al., 1977; Stoll et al., 1998) |
| Ellis-van Creveld |
EVC, EVC2 |
OMIM: 225500 |
(Kamesui et al., 1997; McKusick et al., 1964; Ruiz-Perez and Goodship, 2009; Tompson et al., 2007) |
| Ivemark |
|
OMIM: 208530 |
(Moller et al., 1967) |
| Kaufman-McKusick |
MKKS |
OMIM: 236700 |
(Owens et al., 2009) |
| Ritscher-Schinzel |
|
OMIM: 220210 |
(Hoo et al., 1994; Ritscher et al., 1987) |
| Smith-Lemli-Opitz |
DHCR7 |
OMIM: 270400 |
(Ryan et al., 1998) |
| 3p |
CRELD, CALL |
OMIM: 606217 |
(Drumheller et al., 1996; Green et al., 2000; Kozma et al., 2004; Robinson et al., 2003) |
