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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
Ataxia/Dystonia(MCOLN1) sensory de?cits,spasticity Autosomal Recessive 19p13.2 Missense Mutation MCOLN1 551T>C Ile184Thr Amino acid substitution 0/Manzoor H et.al.,,,2018