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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 |
|---|---|---|---|
| 56953 | NT5M | 5',3'-nucleotidase, mitochondrial | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
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 |
