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Lissencephaly due to TUBA1A mutation

MONDO:0012703

Lissencephaly (LIS) due to TUBA1A mutation is 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.

Also known as: LIS3, lissencephaly 3

0 clinical trials for this condition and its sub-types, 0 tagged with Lissencephaly due to TUBA1A mutation itself.

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Including sub-types (0) Tagged with Lissencephaly due to TUBA1A mutation (0)

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