Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in <i>ROBO3</i>

Abstract

The major clinical characteristics of horizontal gaze palsy and progressive scoliosis were congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.