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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 & nail abnormalities Autosomal Recessive 12q13.13 Duplication HOXC13 200?203dup His68Glnfs*84 Frame shift mutation & PTC 2013/Ali et al.,2013
Ectodermal Dysplasia Type 9 (ECTD9, HOXC13) Hair & nail abnormalities Autosomal Recessive 12q13.13 Nonsense HOXC13 404C>A Ser135* Premature Termination 2013/Ali et al.,2013