Lissencephaly 7 With Cerebellar Hypoplasia
Disease ID: disease_node_19271
Connections displayed (default: 10).
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| Dbxref | MIM:616342 |
|---|---|
| Subclassof | DOID_0050453, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LIS7 |
| Doid Label | lissencephaly 7 with cerebellar hypoplasia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19271 |
| Doid Id | DOID_0112231 |
| Label | Lissencephaly 7 With Cerebellar Hypoplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease)