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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
Anhidrosis (eccrine sweating;InsP3R2) anhidrosis & severe heat intolerance Autosomal Recessive 12p12.1?12p11.22 Missense ITPR2 7492G>A Gly2498Ser Amino Acid Substitution 2014/Klar et al., 2014
Anhidrosis (eccrine sweating;ITPR2) anhidrosis & heat intolerant Autosomal Recessive 12p12.1-p11.2 Missense ITPR2 7492G>A Gly2498Ser Amino Acid Substitution 2014/Klar et al., 2014