Based on the presence of the clinical features of hypertonia and brain malformations, Walker–Warburg Syndrome was initially suspected, but the absence of eye phenotypes and the identification of a mutation in the TUBA1A gene, which has not been shown to cause glycosylation defects or WWS, did not support a WWS diagnosis. Here, TUBA1A is linked to muscular dystrophy-dystroglycanopathy, type A.