lissencephaly due to TUBA1A mutation
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.
MONDO:0015148
lissencephaly type 3
is_a
LIS3
exact
lissencephaly 3
exact
SPBC800.05c SPBC16A3.15c