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