Title Milder presentation of autosomal dominant FAR1-related syndrome: report of the first middle eastern patient and review of the literature

FAR1-related phenotypes caused by FAR1 gene encodes the peroxisomal protein, fatty acyl-CoA reductase 1 (FAR1), which is required to reduce fatty acids to fatty alcohols used to form ether-linked alkyl bonds. Biallelic loss of function variants have been associated with severe psychomotor developmental delayed, seizures, cataracts, growth retardation with microcephaly,