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GTR Home > Conditions/Phenotypes > Lissencephaly 4

Lissencephaly 4

Synonyms
Lissencephaly 4 (with microcephaly)

Summary

Lissencephaly-4 (LIS4) is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

43 tests are in the database for this condition.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1, NDE1
    Summary: nudE neurodevelopment protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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