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GTR Home > Conditions/Phenotypes > Lissencephaly due to TUBA1A mutation

Lissencephaly due to TUBA1A mutation

Synonyms
Lissencephaly 3
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. [from SNOMEDCT_US]

Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B-ALPHA-1, LIS3, TUBA3, TUBA1A
    Summary: tubulin alpha 1a

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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