Table 3 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