NFIB-related disorder is characterized by global developmental delay, dysmorphism, hypotonia, brain and spine malformations. Brain and spinal malformations include hypoplastic or absent corpus callosum, cerebellar anomaly, thin white matter, periventricular nodular heterotopia and a tethered spinal cord. It is a very rare disorder and only 17 families representing 23 affected individuals. NFIB-related disorder is inherited in an autosomal dominant manner.
NFIB