ALDH18A1 and ALDH18A1-related de Barsy syndrome: Pathogenic variants in ALDH18A1 are associated with two distinct disorders: (1) autosomal recessive cutis laxa type 3A (ARCL3A), characterized by wrinkled inelastic skin, connective tissue abnormalities including joint laxity and hernias, and variable neurological involvement [19,20]; and (2) autosomal dominant spastic paraplegia 9A (SPG9A), presenting primarily with progressive lower limb spasticity and occasionally intellectual disability [21].