|
Syndromic HPE with normal karyotype |
|
| Syndromic HPE with normal karyotype |
|
|
|
|
| 214800 |
CHARGE syndrome gene CHD7 8q12 |
| 146510 |
Pallister Hall gene GLI3 7p13 |
| 270400 |
Smith Lemli Opitz DHCR7 11q12-q13 |
| 180849 |
Rubinstein-Taybi gene CREBBP 16p11.3 |
| 249000 |
Meckel syndrome |
| 264480 |
Pseudotrisomy 13 |
| 192430 |
Velo cardio facial Synd gene TBX1 22q11.2 |
| 300073 |
HPE and fetal akynesia, X linked? |
| 300571 |
HPE, ectrodactyly, cleft lip/palate, X linked? |
| 300373 |
Osteopathia striata with cranial sclerosis Xp11.4-p11.22 |
| 245552 |
Lambotte syndrome |
| 184705 |
Steinfeld Syndrome |
| 601357 |
HPE, amelia, facial cleft |
| 600674 |
Microtia-anotia |
| 236680 |
Hydrolethalus syndrome |
| 206900 |
Microphtalmia syndromic |
| 156810 |
MLRD association |
| 202650 |
Dysgnathia complex |
| 601370 |
Genoa Syndrome |
Dubourg et al. Orphanet Journal of Rare Diseases 2007 2:8 doi:10.1186/1750-1172-2-8 |
|