Patients typically present at birth with bilateral cataracts. Patients usually never to learn to walk without support.
On imaging patients white matter is hyperintense on T2-weighted images. Some patients may show hypointensity on FLAIR sequences suggesting caviatation in the frontal lobes progressing posteriorly, and decreasing in volume with time. The Pons is hypoplast and may show increased T2 signal in the corticospinal tracts.