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| Term | polyhydramnios, megalencephaly, and symptomatic epilepsy | ID (Ontology) | DOID:0070511 (Human Disease) |
| 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. | ||
| Also Known As | "PMSE" ; "PMSE syndrome" ; "Pretzel syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| polyhydramnios, megalencephaly, and symptomatic epilepsy 1 rec. |
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| Is a |
autosomal recessive disease syndrome |
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GARD:12913 MESH:C567020 MIM:611087 ORDO:500533 SNOMEDCT_US_2023_03_01:1167371007 UMLS_CUI:C1970203 |
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