Pathophysiology

XLH (X-Linked Hypophosphatemia) Mutations in the PHEX gene located on the X Chromosome.

Medical Diagnosis

Tests X-Rays.
Genetic Testing.
Blood Tests for Phosphorus Levels.

Signs and Symptoms

Delayed ability to walk.
Short stature fatigue.
Short stature.
Fatigue.
Dental problems.
Joint or bone pain.

Treatment

Correcting phosphate levels in the blood.
Vitamin D Therapy.