NFIA and Intellectual disability: Loss of function variants in NFIA are responsible for brain malformation with or without urinary tract defects (OMIM#613735), and patients with NFIA variants show dysmorphisms like small chin, dysplastic helices, small mouth, and other features such as hypoplastic kidney, hydronephrosis, hypotonia, global developmental delay, intellectual disability or agenesis of corpus callosum, similar to patients with 22q11.2DS.