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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 |
|---|---|---|---|
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
Related Glycoprotein
