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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Amyotrophic Lateral Sclerosis 5 (ALS5,SPG11) neurodegeneration,upper&lower motor neuron Autosomal Recessive 15q21.1 - - - - 0/Hentati et al., 1998