PAFAH1B1-Related Conditions (Lissencephaly Including Miller-Dieker Syndrome, Isolated Lissencephaly Sequence, and Subcortical Band Heterotopia)

PAFAH1B1-related conditions include classic lissencephaly, Miller-Dieker syndrome, and subcortical band heterotopia, all featuring disordered cortical development leading to developmental delay, seizures, and hypotonia. Facial dysmorphism and congenital anomalies may be present in more severe forms. Genetic testing and neuroimaging together establish the diagnosis and guide care.