Term Name: | lissencephaly 3 |
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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 ) |