Version: 8.0.0
Date: Tue Jan 28 2025
polyhydramnios, megalencephaly, and symptomatic epilepsy
DOID:0070511
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

polyhydramnios, megalencephaly, and symptomatic epilepsy

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.
Synonyms
  • PMSE
  • PMSE syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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