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pontocerebellar hypoplasia type 2D
Summary
- Definition
- A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia type 2
External Links
- Disease Ontology
- DOID:0060270
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6383 | SDC2 | syndecan 2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 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 | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
