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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:0001539 | Omphalocele |
| HP:0000286 | Epicanthus |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0001250 | Seizure |
| HP:0003196 | Short nose |
| HP:0001339 | Lissencephaly |
| HP:0000463 | Anteverted nares |
| HP:0001626 | Abnormality of the cardiovascular system |
