Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070511 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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