Hypomagnesemia, seizures, and impaired intellectual development-2 (HOMGSMR2) is characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significantly impaired intellectual development (Schlingmann et al., 2018).
For a discussion of genetic heterogeneity of hypomagnesemia, seizures, and impaired intellectual development, see HOMGSMR1 (616418). [from OMIM]
- MedGen UID:
- 1675904
- •Concept ID:
- C5193023
- •
- Disease or Syndrome