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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 10 (ECTD10, EDAR) Hair, nail & teeth problem Autosomal Recessive 2q13 Deletion EDAR 718delAAAG Frame shift mutation 2005/Naeem et al., 2005
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, nail & teeth problem Autosomal Recessive 2q13 Missense EDAR 1144G>A Gly382Ser Amino Acid Substitution 2005/Naeem et al., 2005
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, teeth & Sweat gland problem Autosomal Recessive 2q13 Missense EDAR 293G>A Arg98Gln Amino Acid Substitution 2009/Shimomura et al., 2009
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, teeth & Sweat gland problem Autosomal Recessive 2q13 Missense EDAR 1073G>A Arg358Gln Amino Acid Substitution 2009/Shimomura et al., 2009
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, teeth & Sweat gland problem Autosomal Recessive 2q13 Missense EDAR 1300T>C Trp434Arg Amino Acid Substitution 0/Shimomura et al., 2009
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, teeth & Sweat gland problem Autosomal Recessive 2q13 Deletion EDAR 399_404del M133_C135delinsI Frame shift mutation 0/Tariq et al., 2007
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, teeth & Sweat gland problem Autosomal Recessive 2q13 Splice site EDAR 442+1G>C Frame shift mutation 0/Wasif et al., 2010
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) Hair, teeth & Sweat gland problem Autosomal Recessive 2q13 Nonsense EDAR 370G>T Glu124* Premature Termination 0/Bibi et al., 2011
Ectodermal Dysplasia Type 10 (ECTD10, EDAR) hypohidrosis, extreme hyperthermia, and extreme dryness of the skin and eye Autosomal Recessive 2q13 nonsense mutation EDAR 1249C>T Gln417* Pre-mature Termination Ahmad et al., 2019/2019