| Location | 17p13.3 |
| Protein function | Regulatory subunit of platelet-activating factor acetylhydrolase IB |
| RABEP1 | May modify phenotypic expression 11 |
| Autosomal dominant | Single copy of deleted chromosome 17 is sufficient to cause disease |
| Genetic counseling | Recommended for all families |
| Complete lissencephaly | Absent or nearly absent cortical gyration |
| Simplified sulcal pattern | Only primary sulci present |
| Thickened cortex | 4-7 mm (normal: 2-3 mm) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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