Lissencephaly 10
Disease ID: disease_node_19273
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618873 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050453 |
| Data Source | DOID |
| Synonyms | LIS10 |
| Doid Label | lissencephaly 10 |
| Doid Description | A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19273 |
| Doid Id | DOID_0112229 |
| Label | Lissencephaly 10 |
- Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)