Parents

Defects in the gene PRUNE1 cause a rare neurodevelopmental disorder named NMIHBA, which stands for neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies. The disorder is inherited in an autosomal recessive form, meaning that an affected child inherits two defective copies of the PRUNE1 gene, one from each unaffected parent. 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, however some disease associated variants have been found to be more common in certain populations from Turkey and the Middle East.