Term Name: polyhydramnios, megalencephaly, and symptomatic epilepsy
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 )

Relationships
is a type of: autosomal recessive disease syndrome