1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070511 | polyhydramnios, megalencephaly, and symptomatic epilepsy | 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. |