About   Help   FAQ
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory