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septooptic dysplasia
Summary
- Synonym
-
- De Morsier syndrome
- SOD
- septo-optic dysplasia
- Definition
- A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14.
- Super Class
- autosomal genetic disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
Related Glycoprotein
