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GTR Home > Conditions/Phenotypes > Lissencephaly 6 with microcephaly

Lissencephaly 6 with microcephaly

Summary

Lissencephaly-6 (LIS6) is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KAT, LIS6, KATNB1
    Summary: katanin regulatory subunit B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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