The major clinical characteristics of NMIHBA caused by pathogenic variants in the PRUNE1 gene are severe global developmental delay, profound intellectual disability, absent language, hypotonia, spasticity, and brain abnormalities. Microcephaly and seizures have been reported in more than half of patients. Other variable features include visual and gastrointestinal problems, peripheral neuropathy and scoliosis and foot deformities.
PRUNE1