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lissencephaly
Summary
- Definition
- A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
- Super Class
- congenital nervous system abnormality
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 7846 | TUBA1A | tubulin alpha 1a | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q71U36 | Tubulin alpha-1A chain | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68369 | Tubulin alpha-1A chain | |
| Q62165 | Dystroglycan 1 |
