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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

51 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (51 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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