Loss-of-function mutations in GPSM2 have previously been associated with Chudley-McCullough Syndrome (CMCS [MIM 604213]), a rare autosomal recessive disorder characterized by sensorineural deafness, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement. Here, GPSM2 is linked to Chudley-McCullough syndrome.