NFIA-related disorder is characterized by global developmental delay, brain malformations with or without urinary tract defects. Brain malformations include hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, a tethered spinal cord and Chiari type I malformation. A fraction of patients may have seizures. It is a very rare disorder and only 16 families representing 26 affected individuals. NFIA-related disorder is inherited in an autosomal dominant manner.
NFIA