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Canavan disease Alexander disease Griscelli syndrome Leigh syndrome Spinal muscular atrophy Opsoclonus myoclonus syndrome Rasmussen's encephalitis Krabbe disease Familial dysautonomia Atypical hemolytic uremic syndrome Sanfilippo syndrome Primary lateral sclerosis Ramsay hunt syndrome type 1 Dravet syndrome Leukocyte adhesion deficiency Paramyotonia congenita Hypophosphatasia Joubert syndrome Aicardi syndrome Corticobasal degeneration Severe combined immunodeficiency Lymphangioleiomyomatosis Tuberous sclerosis Ohtahara syndrome Congenital myasthenic syndrome Friedreich's ataxia Craniodiaphyseal dysplasia Short qt syndrome Cockayne syndrome Pyruvate dehydrogenase deficiency Myotonic dystrophy Schwannomatosis Multiple system atrophy Mcleod syndrome Morvan's syndrome Susac's syndrome Fabry disease Leber congenital amaurosis Fanconi anemia Progressive muscular atrophy Spinal and bulbar muscular atrophy Huntington's disease Lig4 syndrome Fatal insomnia Refsum disease Granulomatosis with polyangiitis Dyskeratosis congenita Amyotrophic lateral sclerosis Mastocytosis Coats' disease Familial amyloid polyneuropathy Lateral medullary syndrome Primary ciliary dyskinesia Panayiotopoulos syndrome Becker muscular dystrophy Glycogen storage disease type ii Temporal lobe epilepsy Melas syndrome Ollier disease Epidermodysplasia verruciformis Dentin dysplasia Dopamine-responsive dystonia Lutembacher's syndrome Muscular dystrophy Motor neuron disease Proteus syndrome Carpenter syndrome Stickler syndrome Angelman syndrome Lysosomal acid lipase deficiency Incontinentia pigmenti Noncompaction cardiomyopathy Metachromatic leukodystrophy Aceruloplasminemia Batten disease Fg syndrome Diastrophic dysplasia Charge syndrome Hypokalemic periodic paralysis Diffuse neonatal hemangiomatosis Addison's disease 1p36 deletion syndrome Tetra-amelia syndrome Benedikt syndrome Felty's syndrome Methylmalonic acidemia Bickerstaff brainstem encephalitis Hemoglobin lepore syndrome Persistent truncus arteriosus Childhood disintegrative disorder Amelogenesis imperfecta Hyperkalemic periodic paralysis Menkes disease Fumarase deficiency Hypoplastic left heart syndrome Acdc Sotos syndrome Pfeiffer syndrome Pentalogy of cantrell Goodpasture syndrome

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