polyhydramnios, megalencephaly, and symptomatic epilepsy

Term ID

DOID:0070511

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. (2)

References

• GARD:12913
• MESH:C567020
• OMIM:611087
• ORDO:500533
• SNOMEDCT_US_2023_03_01:1167371007
• UMLS_CUI:C1970203

Ontology

Human Disease   ( DOID:0070511 )