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Boli A-Z Aging 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 Aniridia 1 Anorexia Nervosa 1 Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Ataxia Neuropathy Spectrum Axenfeld-Rieger Syndrome Blood Group--Ahonen Blood Group, I System Cenani-Lenz Syndactyly Syndrome Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Congenital Myasthenic Syndromes with Glycosylation Defect Congenital Myasthenic Syndrome with Episodic Apnea Cutaneous Mastocytosis Emery-Dreifuss Muscular Dystrophy Epidermolysis Bullosa Fetal Akinesia Deformation Sequence Hepatic Adenomas, Familial Ichthyosis Bullosa of Siemens Infant Botulism Lambert-Eaton Myasthenic Syndrome Limb-Girdle Muscular Dystrophy Malaria Microcephaly Multiple Pterygium Syndrome, Escobar Variant Multiple Pterygium Syndrome, Lethal Type Muscular Dystrophy Myasthenia Gravis Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 1a, Slow-Channel Myasthenic Syndrome, Congenital, 1b, Fast-Channel Myasthenic Syndrome, Congenital, 4a, Slow-Channel Myasthenic Syndrome, Congenital, 5 Myasthenic Syndrome, Congenital, 6, Presynaptic Myopathy Myopathy, Tubular Aggregate, 1 Myopia Nervous System Disease Neuromuscular Junction Disease Neuronitis Nevus Comedonicus Phelan-Mcdermid Syndrome Pierson Syndrome Polyglucosan Body Myopathy 1 with or Without Immunodeficiency Postsynaptic Congenital Myasthenic Syndromes Presynaptic Congenital Myasthenic Syndromes Sclerosteosis 2 Scoliosis Slow-Channel Congenital Myasthenic Syndrome Tetraamelia Syndrome, Autosomal Recessive Thymic Hyperplasia Undifferentiated Pleomorphic Sarcoma