Scoliosis

HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative: