WDR73 and Galloway-Mowat syndrome: Here we associate a novel protein-truncating mutation in WDR73 with a nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum (herein referred to as NCS) characterized by abnormal cerebral cortical growth without polymicrogyria or heterotopia, cerebellar hypoplasia with granule layer aplasia, aberrant visual pathway development, depletion of striatal cholinergic interneurons, and focal segmental glomerulosclerosis.