ALDH18A1 and de Barsy syndrome: Loss-of-function is a known mechanism of disease (gene has 15 pathogenic LOF variants and gnomAD Loss-of-Function Observed/Expected = 0.326 is less than 0.755), associated with Cutis laxa, autosomal recessive, type IIIA, ALDH18A1-related de Barsy syndrome, autosomal dominant complex spastic paraplegia type 9B, autosomal recessive complex spastic paraplegia type 9B, Cutis Laxa, autosomal dominant 1 and 4 more.