hypomagnesaemia type 4
hypomagnesaemia type 4
A rare autosomal recessive condition (OMIM:611718) characterised by massive renal hypomagnesaemia with normal levels of serum calcium and calcium excretion.Clinical findings
Seizures, mild-to mederate psychomotor retardation, and brisk tendon reflexes.
Molecular pathology
Defects in EGF, which encodes epidermal growth factor, cause hypomagnesaemia type 4.