Polyhydramnios, megalencephaly, and symptomatic epilepsy

Definition

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 — per MONDO

Also identified as

• DOID 0070511 per MONDO
• MESH C567020 per MONDO
• OMIM 611087 per MONDO
• Orphanet 500533 per MONDO
• UMLS C1970203 per MONDO