renal hypomagnesemia 4

A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25.

Signs and symptoms

• Moderate intellectual disability
• Hypomagnesemia
• Seizure
• Global developmental delay

Also known as: HOMG4