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Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory