Clinical Characteristics

NFIA related neurodevelopmental disorder is a very rare condition that is characterised by macrocephaly, seizure, hypotonia, global developmental delay, recurrent urinary tract infections due to urinary tract malformation, and brain malformation. Abnormalities of the corpus callosum are the most consistent feature of this disorder. Other CNS imaging findings are non-progressive ventriculomegaly, hydrocephalus, Chiari type I malformation, and tethered spinal cord. Less common CNS imaging findings include polymicrogyria and decreased periventricular white matter. Seizures are present in approximately half of reported individuals. 

Developmental delay, ranging from mild to severe, includes both motor and speech delays. Some affected individuals also have hypotonia.  Despite early delays, most affected individuals are able to walk and use verbal language to communicate. Behavioral abnormalities reported in affected individuals include autism and bipolar disorder/depression.