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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O08789 | Max-binding protein MNT | |
| P62259 | 14-3-3 protein epsilon |
- 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 |
