Summary

46 Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (pmse syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability.some patients also have heart problems, diabetes insipidus, kidney problems and leukemia.it is caused by a mutationin the lyk5 gene.  seizures are difficult to treat and there is ongoing research for more effective medication

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait