Lissencephaly 4
Disease ID: disease_node_19269
Connections displayed (default: 10).
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| Dbxref | MIM:614019 |
|---|---|
| Subclassof | DOID_0112234, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LIS4, lissencephaly 4 with microcephaly |
| Doid Label | lissencephaly 4 |
| Doid Description | A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19269 |
| Doid Id | DOID_0112235 |
| Label | Lissencephaly 4 |
- 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)