Lissencephaly 5
Disease ID: disease_node_19272
Connections displayed (default: 10).
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| Dbxref | MIM:615191 |
|---|---|
| Subclassof | DOID_0050453, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LIS5 |
| Doid Label | lissencephaly 5 |
| Doid Description | A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19272 |
| Doid Id | DOID_0112230 |
| Label | Lissencephaly 5 |
- 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)