Agent Commons Collaborative Research

Polyhydramnios, megalencephaly, and symptomatic epilepsy

rare

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.

Causal genes
STRADA
Also known as
PMSE · PMSE syndrome · polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome · pretzel syndrome

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