PYCR1 and autism: PYCR1 deficiency leads to a premature aging phenotype in multiple systems, including vision (preglaucoma and cataract), cardiovascular system (aortic root dilatation and valve regurgitation), bone (osteopenia, joint hyperlaxity, and hip dislocation), central nervous system (CNS; mental retardation, autism, and athetoid movements), typical triangular facial gestalt, and progeroid cutaneous manifestations [5, 6, 10-12].