Term Name: | lissencephaly 4 |
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Synonyms: | LIS4, lissencephaly 4 with microcephaly |
Definition: | A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. |
Ontology: | Human Disease [DOID:0112235] ( DOID:0112235 ) |