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GTR Home > Conditions/Phenotypes > Lissencephaly 8

Lissencephaly 8

Summary

Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016). For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LIS8, SMILE, TMTC3
    Summary: transmembrane O-mannosyltransferase targeting cadherins 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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