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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 9 (ECTD9, HOXC13) hair and Nail dysplasia Autosomal Recessive 12q13.13 Missense HOXC13 929A?>?C Asn310Thr Amino Acid Substitution 0/Khan et al., 2017
Ectodermal Dysplasia Type 9 (ECTD9, HOXC13) hair and Nail dysplasia Autosomal Recessive 12q13.13 Nonsense HOXC13 265C>T Gln89* PTC 0/Mehmood et al., 2017