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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
Anophthalmia/Microphthalmia (ALDH1A3) anophthalmia and microphthalmia Autosomal recessive 15q26.3 Missense Mutation ALDH1A3 1240G>C Gly414Arg Amino Acid Substitution 0/Lin et al., 2018
Anophthalmia/Microphthalmia (ALDH1A3) anophthalmia and microphthalmia Autosomal recessive 15q26.3 Duplication Mutation ALDH1A3 172dup .Glu58Glyfs*5 Frame Shift & PTC 0/Lin et al., 2018
Anophthalmia/Microphthalmia (ALDH1A3) anophthalmia and microphthalmia Autosomal recessive 15q26.3 Deletion ALDH1A3 1310_1311delAT Tyr437Trpfs*44 Frame Shift & PTC 0/Ullah et al., 2016
Anophthalmia/Microphthalmia (ALDH1A3) anophthalmia and microphthalmia Autosomal recessive 15q26.3 Missense Mutation ALDH1A3 964G>A Val322Met Amino Acid Substitution 0/Ullah et al., 2016