Angelman syndrome Ankylosing spondylitis Apert syndrome Charcot-Marie-Tooth disease Congenital adrenal hyperplasia Cystic fibrosis (CF) Duchenne muscular dystrophy Ehlers-Danlos syndrome Fabry disease Fragile X syndrome Huntington’s disease Klinefelter (XXY) syndrome Marfan syndrome Noonan syndrome Prader-Willi syndrome Rett syndrome Tay-Sachs disease Albinism Haemochromatosis Haemophilia Neurofibromatosis Thalassaemia Tourette syndrome Turner Von Willebrand disease Williams