Lissencephaly 6
Disease ID: disease_node_19268
Connections displayed (default: 10).
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| Dbxref | MIM:616212 |
|---|---|
| Subclassof | DOID_0112234, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LIS6 |
| Doid Label | lissencephaly 6 |
| Doid Description | A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19268 |
| Doid Id | DOID_0112236 |
| Label | Lissencephaly 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Microlissencephaly(ID:disease_node_19267) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)