| Metadata | |
|---|---|
| ID | DOID:0112233 |
| Name | lissencephaly 8 |
| 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. https://pubmed.ncbi.nlm.nih.gov/27773428/ |
| Xrefs | |
| Synonyms |
LIS8 [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a lissencephaly |