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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 |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 945 | CD33 | CD33 molecule | |
| 952 | CD38 | CD38 molecule | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 2572 | GAD2 | glutamate decarboxylase 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 |
