megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

This disorder is part of our Brain Malformation Panel (NGS). Click here to access a complete list of the genes covered in this panel. 




This disorder -abbreviated MPPH- stems from mutations in the PIK3R2 and AKT3 genes, and it comprises a variety of conditions: megalencephaly (abnormal brain overgrowth), hydrocephalus (buildup of cerebrospinal fluid in the brain), and polymicrogyria (presence of too many folds -gyri- of a smaller than normal size). Polydactyly (presence of extra fingers) may also be seen.

All of Amplexa's neurology tests can be found in our Neurology Brochure.