TBX5 and proximal spinal muscular atrophy: Some examples of these primate-specific disease genes encompass CFHR3 associated with macular degeneration [100], SMPD4 with the retinopathy [101], TUBA3D with the keratoconus [102], OPN1MW with loss of color vision [103, 104], YY1AP1 with Fibromuscular dysplasia [105], SMN2 with the Spinal Muscular Atrophy [106], GH1 with defects in adult bone mass and bone loss [107], KCNJ18 with thyrotoxicosis complicated by paraplegia and hyporeflexia [108], TBX5 with the cardiac and limb defects of Holt-Oram syndrome [109, 110], and DUX4 with muscular dystrophy [111].