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lissencephaly 7 with cerebellar hypoplasia
Summary
- Synonym
-
- LIS7
- Definition
- A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.
- Super Class
- autosomal recessive disease lissencephaly
External Links
- Disease Ontology
- DOID:0112231
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q00535 | Cyclin-dependent kinase 5 |
