EGF-related primary hypomagnesemia with intellectual disability
ORPHA:620368· ICD-10 E83.4
Definition
A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy