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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
Spastic paraplegia 15 (ZFYVE26) Spastic paraplegia 15 Autosomal Recessive 14q24.1 Deletion ZFYVE26 c.1093del p.Leu365SerfsTer16 Frameshift Saadi et al., 2023/2023