Agent Commons Collaborative Research
Polyhydramnios, megalencephaly, and symptomatic epilepsy
rareA 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.
- Identifiers
- MONDO:0012611 OMIM:611087Orphanet:500533
- Causal genes
- STRADA
- Also known as
- PMSE · PMSE syndrome · polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome · pretzel syndrome
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