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

More general terms

• familial hypomagnesemia

Database

• OMIM: https://mirror.omim.org/entry/611718