| GENE |
OMIM |
FENOTIPO |
| AKT3 |
611223 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndr. |
| ARFGEF2 |
605371 |
Periventricular nodular heterotopia |
| ARX |
300382 |
Lissencephaly |
| COL4A1 |
120130 |
Porencephaly |
| DCX |
300121 |
Double cortex lissencephaly, |
| DYNC1H1 |
600112 |
Pachygyria |
| DYRK1A |
600855 |
Severe microcephaly |
| EMX2 |
600035 |
Schizencephaly |
| EOMES |
604615 |
Microcephaly |
| ERMARD |
615532 |
Periventricular nodular heterotopia |
| FLNA |
300017 |
Periventricular nodular heterotopia |
| GPR56 |
604110 |
Polymicrogyria |
| HESX1 |
601802 |
Septooptic dysplasia |
| IER3IP1 |
609382 |
Microcephaly with simplified gyration |
| KIF2A |
602591 |
Pachygyria, severe congenital microcephaly |
| KIF5C |
604593 |
Severe microcephaly with other brain malformations |
| MBD5 |
156200 |
Microcephaly |
| MEF2C |
600662 |
Microcephaly, agenesis of the corpus callosum |
| MTOR |
601231 |
Hemimegalencephaly, Smith-Kingsmore syndrome |
| NDE1 |
609449 |
Lissencephaly |
| OCLN |
602876 |
Band-like calcification with simplified gyration and polymicrogyria |
| PAFAH1B1 |
601545 |
Lissencephaly |
| PAX6 |
607108 |
Polymicrogyria |
| PIK3CA |
171834 |
Hemimegalencephaly |
| PIK3R2 |
603157 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndr. |
| RELN |
600514 |
Lissencephaly with cerebellar hypoplasia |
| SHH |
600725 |
Holoprosencephaly |
| SIX3 |
603714 |
Holoprosencephaly |
| SRPX2 |
300642 |
Bilateral perisylvian polymicrogyria |
| TBC1D24 |
613577 |
Cortical malformations |
| TGIF1 |
602630 |
Holoprosencephaly |
| TUBA1A |
602529 |
Lissencephaly |
| TUBA8 |
605742 |
Polymicrogyria with optic nerve hypoplasia |
| TUBB2B |
612850 |
Polymicrogyria, symmetric or asymmetric |
| TUBB3 |
602661 |
Complex cortical dysplasia with other brain malformations |
| TUBG1 |
191135 |
Complex cortical dysplasia with other brain malformations |
| VLDLR |
192977 |
Lissencephaly |
| WDR62 |
613583 |
Microcephaly with or without cortical malformations |
| ZEB2 |
605802 |
Mowat-Wilson syndrome |
| ZIC2 |
603073 |
Holoprosencephaly |
