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DOID:0070511 - polyhydramnios, megalencephaly, and symptomatic epilepsy
Disease Ontology 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.
Synonyms: PMSE, PMSE syndrome, Pretzel syndrome,
Xenbase Genes
:
strada
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)