Nephronophthisis 2 (INVS)Neurodegeneration Due to Cerebral Folate Transport Deficiency (FOLR1)
Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene FOLR1. This progressive neurological disorder has late infantile onset, and the clinical phenotypes include psychomotor regression, neurodegeneration, epilepsy, disturbed brain myelination, as well as intellectual disability, speech difficulties, ataxia, and tremors. The life expectancy for this disorder is currently unknown.
For information about carrier frequency and residual risk, please see the residual risk table.