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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
Stuttering Familial Persistent 2 (STUT2,GNPTAB) non-syndromic stuttering 12q23.2 Missense GNPTAB 961A>G Ser321Gly Amino Acid Substitution 0/Raza et al., 2016
Stuttering Familial Persistent 2 (STUT2,GNPTAB) non-syndromic stuttering 12q23.2 Missense GNPTAB 1875C>G Phe625Leu Amino Acid Substitution 0/Raza et al., 2016
Stuttering Familial Persistent 2 (STUT2,GNPTAB) non-syndromic stuttering 12q23.2 Missense GNPTAB 3598G>A Glu1200Lys Amino Acid Substitution 0/Kang et al., 2010