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 )

Relationships
is a type of: autosomal recessive disease lissencephaly