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familial hypomagnesemia type 4; renal hypomagnesemia normocalciuric
Pathology:
- disorder of renal tubules
Genetics:
- associated with defects in EGF
Clinical manifestations:
- seizures
- mild-to moderate psychomotor retardation
- brisk deep tendon reflexes
Laboratory:
- serum magnesium: hypomagnesemia
- serum calcium normal
- 24 hour urine calcium is normal
General
familial hypomagnesemia
Database Correlations
OMIM 611718
References
OMIM :accession 611718