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polyhydramnios, megalencephaly, and symptomatic epilepsy
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0070511
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
