Coarse hair, Depressed nasal bridge, Disproportionate short-trunk short stature, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Focal segmental glomerulosclerosis, Glomerulopathy, High pitched voice, Hip dislocation, Hyperlordosis, Hypermelanotic macule, Hypertension, Hypoplasia of the capital femoral epiphysis, Intrauterine growth retardation, Lateral displacement of the femoral head, Lumbar hyperlordosis, Lymphopenia, Melanocytic nevus, Microdontia, Motor delay, Multiple cafe-au-lait spots, Myopia, Nephrotic syndrome, Neutropenia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Platyspondyly, Proteinuria, Protuberant abdomen, Recurrent infections, Renal insufficiency, Shallow acetabular fossae, Short neck, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Thrombocytopenia, Transient ischemic attack, Waddling gait