Polyhydramnios, megalencephaly, and symptomatic epilepsy

A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.

Also known as: PMSE syndrome, polyhydramnios, megalencephaly, and symptomatic epilepsy, PMSE, polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, polyhydramnios-megalencephaly-symptomatic epilepsy syndrome, pretzel syndrome

7 clinical trials for this condition and its sub-types, 0 tagged with Polyhydramnios, megalencephaly, and symptomatic epilepsy itself.