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Boli A-Z 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy Adie Pupil Adult Neuronal Ceroid Lipofuscinosis Aging Aicardi-Goutieres Syndrome Aicardi-Goutieres Syndrome 1 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Andersen Cardiodysrhythmic Periodic Paralysis Aniridia 1 Anorexia Nervosa 1 Arterial Tortuosity Syndrome Arthrochalasia Ehlers-Danlos Syndrome Aspartylglucosaminuria Ataxia and Polyneuropathy, Adult-Onset Ataxia-Telangiectasia Blood Group--Ahonen Blood Group, Dombrock System Cerebral Atrophy Cerebritis Ceroid Lipofuscinosis, Neuronal, 10 Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 13 Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 3 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 5 Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Storage Disease Chorea, Childhood-Onset, with Psychomotor Retardation Choreatic Disease Dementia Epilepsy Hematopoietic Stem Cell Transplantation Hepatic Adenomas, Familial Hypotonia Krabbe Disease Lipid Storage Disease Lysosomal Storage Disease Microcephaly Myoclonus Neuronal Ceroid-Lipofuscinoses Neuronal Ceroid Lipofuscinosis Neuronitis Precocious Puberty Progressive Myoclonus Epilepsy Retinitis Rett Syndrome Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 7 Visual Cortex Disease Visual Pathway Disease