Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2megacisterna magna
…ith a 21% mutation burden. Variants in AKT3 are associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 and belong to disorders involving dysregulation of the PI3K-AKT…