Lissencephaly 8
Disease ID: disease_node_19270
Connections displayed (default: 10).
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| Dbxref | MIM:617255 |
|---|---|
| Subclassof | DOID_0050453, DOID_0050737 |
| Data Source | DOID |
| Synonyms | LIS8 |
| Doid Label | lissencephaly 8 |
| Doid Description | A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19270 |
| Doid Id | DOID_0112233 |
| Label | Lissencephaly 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)