Conditions / Genetic
X-linked hypoparathyroidism
info · Genetic
A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.
Signs and symptoms
- Abnormality of the neck
- Seizure
- Congenital hypoparathyroidism
- Tetany
Also known as: HYPX; agenesis of parathyroid glands