Term Name: | polyhydramnios, megalencephaly, and symptomatic epilepsy |
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Synonyms: | PMSE, PMSE syndrome, Pretzel syndrome |
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. |
Ontology: | Human Disease [DOID:0070511] ( DOID:0070511 ) |