| Metadata | |
|---|---|
| ID | DOID:0070511 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/33605605/, https://pubmed.ncbi.nlm.nih.gov/17522105/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1167371007 |
| SKOS |
exactMatch MESH:C567020 exactMatch MIM:611087 exactMatch UMLS_CUI:C1970203 exactMatch SNOMEDCT_US_2023_03_01:1167371007 exactMatch GARD:12913 exactMatch ORDO:500533 |
| Subsets |
DO_rare_slim |
| Synonyms |
PMSE [EXACT] PMSE syndrome [EXACT] Pretzel syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
existence starts during some Fetal onset has material basis in some autosomal recessive inheritance |