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Disease Ontology Browser
polyhydramnios, megalencephaly, and symptomatic epilepsy (DOID:0070511)
Alliance: disease page
Synonyms: PMSE; PMSE syndrome; Pretzel syndrome
Alt IDs: OMIM:611087, MESH:C567020, ORDO:500533, UMLS_CUI:C1970203
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory