Acromegaly Achromatopsia CNGB3 Alport syndrome Antibody-mediated rejection (AMR) in kidney transplantation Autoinflammatory syndromes Congenital myasthenic syndromes Creatine deficiency Disorders of puberty and reproduction Dravet syndrome Endogenous cushings syndrome Eosinophilic esophagitis Fragile X syndrome Gaucher disease Gaucher disease type 3 Hereditary inclusion body myopathy Hunter syndrome Hypoparathyroidism LPL deficiency Lysosomal storage disease Methylmalonic acide mia Morquio B Myositis Myotubular myopathy Neuromyelitis optica Nontuberculous mycobacteria lung infection Partial or generalised epilepsy with seizure clusters Pemphigus vulgaris Pompe disease (late onset) Rett syndrome Sarcoidosis Seizure clustures Short bowel syndrome Transverse myelitis Tuberous sclerosis complex X-linked retinoschisis |