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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
Ectodermal Dysplasia Type 1 (ECTD1, EDA) Hair, teeth & Sweat gland problem X-Linked recessive Xq12-q13.1 Missense EDA 457C>T Arg153Cys Amino Acid Substitution 2009/Shimomura et al., 2009
Ectodermal Dysplasia Type 1 (ECTD1, EDA) Hair, teeth & Sweat gland problem X-Linked recessive Xq12-q13.1 Missense EDA 463C>T Arg155Cys Amino Acid Substitution 2009/Shimomura et al., 2009
Ectodermal Dysplasia Type 1 (ECTD1, EDA) Hair, teeth & Sweat gland problem X-Linked recessive Xq12-q13.1 Missense EDA 1045G>A Ala349Thr Amino Acid Substitution 2009/Shimomura et al., 2009
Ectodermal Dysplasia Type 1 (ECTD1, EDA) Hair, teeth & Sweat gland problem X-Linked recessive Xq12-q13.1 Nonsense EDA 58C>T Arg20* Premature Termination 2009/Shimomura et al., 2009
Ectodermal Dysplasia Type 1 (ECTD1, EDA) Hair, teeth & Sweat gland problem X-Linked recessive Xq12-q13.1 Missense EDA 1091T>C Met364Thr Amino Acid Substitution 0/Azeem et al., 2009
Tooth Agenesis, Hypodontia (EDA) congenital absence of teeth X-Linked Xq12-q13.1 Missense EDA 993G>C Gln331His Amino Acid Substitution 0/Ayub et al., 2010
Tooth Agenesis, Hypodontia (EDA) congenital absence of teeth X-Linked Xq12-q13.1 Missense EDA 1091T>C Met364Thr Amino Acid Substitution 0/Rasool et al., 2008