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 and dysplasia, hypotonia, delayed walking, severely impaired intellectual development, speech delay and seizures. Some individuals also have subtle dysmorphic features. CHEGDD has an autosomal recessive inheritance.
OXR1