Orphanet: Primary hypomagnesemia refractory seizures intellectual disability syndrome

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Disease definition

A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.

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Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

ORPHA:564178

A summary on this disease is available in Español (2023) Nederlands (2023)

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