Rare Diseases/Conditions 15q conditions Cavernoma Kallmann Syndrome (KS) and Congenital Hypogonadotropic Hypogonadism (CHH) Sotos syndrome Syringomyelia & Chiari Malformation Ehlers-Danlos Syndromes (EDS) Fetal Neonatal Alloimmune Thrombocytopenia Primary Sclerosing Cholangitis (PSC) Multiple System Atrophy (MSA) ROHHAD Genetic Haemochromatosis (GH) Fragile X Syndrome BRIC & PFIC Glanzmann Thrombasthenia (GT) Bardet‑Biedl Syndrome PANS & PANDAS Fibrodysplasia Ossificans Progressiva (FOP) Von Willebrand Disorder Haemophilia PSP (Progressive Supranuclear Palsy) Addison’s Disease & Adrenal Insufficiency Achalasia Jordan's syndrome Phenylketonuria(PKU)
