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GTR Home > Conditions/Phenotypes > Cobblestone lissencephaly without muscular or ocular involvement

Cobblestone lissencephaly without muscular or ocular involvement

Synonyms
Lissencephaly 5
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLM, LIS5, LAMB1
    Summary: laminin subunit beta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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