lissencephaly 8 (DOID:0112233)
Alliance: disease page
Synonyms: LIS8
Alt IDs: OMIM:617255
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.