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GTR Home > Conditions/Phenotypes > Lissencephaly 9 with complex brainstem malformation

Lissencephaly 9 with complex brainstem malformation

Summary

Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP620, ACF7, KIAA0754, LIS9, Lnc-PMIF, MACF, OFC4, MACF1
    Summary: microtubule actin crosslinking factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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