Term Name: lissencephaly 3
Synonyms: LIS3
Definition: A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
Ontology: Human Disease [DOID:0112232]   ( DOID:0112232 )

Relationships
is a type of: autosomal dominant disease lissencephaly