Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
ORPHA:620363· ICD-10 E83.4
Definition
A rare renal tubular disease characterized by hypomagnesemia due to renal magnesium wasting, recurrent generalized seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy