Term Name: | lissencephaly 8 |
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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 ) |