Table 3.
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 |