| Term Name: | lissencephaly 8 |
|---|---|
| Synonyms: | LIS8 |
| Definition: | 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. |
| Ontology: | Human Disease [DOID:0112233] ( DOID:0112233 ) |