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GTR Home > Conditions/Phenotypes > Norman-Roberts syndrome

Norman-Roberts syndrome

Synonyms
Lissencephaly 2; Lissencephaly 2 (Norman-Roberts type); Lissencephaly syndrome Norman-Roberts type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Lissencephaly ('smooth brain') is a severe disorder of brain development in which neuronal migration is impaired, leading to a thickened cerebral cortex in which the normally folded contour is simplified and smooth. Lissencephaly-2 (LIS2) is associated with severe abnormalities of the cerebellum and hippocampus (summary by Hong et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

50 tests are in the database for this condition.

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Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ETL7, LIS2, PRO1598, RL, RELN
    Summary: reelin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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