Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Miller-Dieker lissencephaly syndrome
Summary
- Synonym
-
- MDS
- Miller-Dieker syndrome
- Definition
- A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
- Super Class
- autosomal dominant disease syndrome
External Links
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0002353 | EEG abnormality |
| HP:0000348 | High forehead |
| HP:0001561 | Polyhydramnios |
| HP:0000177 | Abnormal upper lip morphology |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0000960 | Sacral dimple |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0001510 | Growth delay |
| HP:0000112 | Nephropathy |
