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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 mutation in the LYK5 gene. Seizures are difficult to treat and there is ongoing research for more effective medication.
Source: GARD Last updated on 05-01-20
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