Parents

Five individuals, from three unrelated families, with OXR1 variants have been reported and diagnosed with Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay (CHEGDD). All patients showed cerebellar atrophy (loss of neuron and connection between neurons), hypotonia (floppiness), delayed walking, severely impaired intellectual development, speech delay and seizures. It is transmitted in an autosomal recessive manner which means that both copies of the gene must carry the mutations for the disease to occur.