Hypomagnesemia, seizures, and impaired intellectual development-1 (HOMGSMR1) is characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).
Genetic Heterogeneity of Hypomagnesemia, Seizures, and Impaired Intellectual Development
HOMGSMR2 (618314) is caused by mutation in the ATP1A1 gene (182310) on chromosome 1p13. [from OMIM]
- MedGen UID:
- 906582
- •Concept ID:
- C4225333
- •
- Disease or Syndrome