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Boli A-Z Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Alport Syndrome, X-Linked Al-Raqad Syndrome Alzheimer Disease 3 Anauxetic Dysplasia 1 Aniridia 1 Anorexia Nervosa 1 Arthrochalasia Ehlers-Danlos Syndrome Atrial Fibrillation Atrioventricular Block Autosomal Dominant Limb-Girdle Muscular Dystrophy Blood Group--Ahonen Cardiac Conduction Defect Cardiomyopathy, Dilated, 1h Centronuclear Myopathy Collagen Vi-Related Myopathy Congenital Myasthenic Syndrome Dilated Cardiomyopathy Dyskeratosis Congenita Emerinopathy Emery-Dreifuss Muscular Dystrophy 1, X-Linked Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, X-Linked Emery-Dreifuss Syndrome Esterase C Familial Partial Lipodystrophy Hemophagocytic Lymphohistiocytosis, Familial, 1 Hepatic Adenomas, Familial Immunoglobulin E Concentration, Serum Inclusion Body Myositis Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant Limb-Girdle Muscular Dystrophy Lipodystrophy Mucolipidosis Ii Alpha/beta Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly Muscular Dystrophy Muscular Dystrophy, Limb-Girdle, Type 1b Myopathy Myopathy, Proximal, and Ophthalmoplegia Myositis Myotonic Dystrophy Natural Killer Cell Leukemia Nervous System Disease Pelger-Huet Anomaly Polyneuropathy Reynolds Syndrome Scapuloperoneal Myopathy, Myh7-Related Tetraamelia Syndrome, Autosomal Recessive