Pathogenic variants in PRUNE1 cause an autosomal recessive neurodevelopmental disorder known as NMIHBA, which stands for neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (MIM #617481). To date, less than 40 patients worldwide have been reported with this disorder. Consistent features across the majority of patients include severe global developmental delay, profound intellectual disability with absent language and brain abnormalities.
Patients with NMIHBA have been reported in different parts of the world and are from different ancestries. However some variants have been found to be enriched in certain regions and ancestry backgrounds, such as in the Turkish and Ojibwe-Cree populations where the incidence of the disorder appears to be higher due to distinct founder mutations segregating in these populations.