LAMC3-related cortical malformation is a rare autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in the LAMC3gene. It is mainly characterized by malformations of cortical development, classically involving the occipital lobes, including occipital pachygyria and polymicrogyria. Reported patients may present with epilepsy, developmental delay, intellectual disability, visual symptoms, and variable neuropsychiatric or neurological manifestations. Brain malformations may extend beyond the occipital lobes, involving temporal, parietal, frontal, or posterior periventricular regions in some individuals. The condition is extremely rare, with only a limited number of unrelated individuals and families reported worldwide.
