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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
Mesoaxial synostotic syndactyly with phalangeal reduction (BHLHA9) Mesoaxial synostotic syndactyly with phalangeal reduction Autosomal Recessive 17p13.3 Missense BHLHA9 311T>C Ile104Thr Amino Acid Substitution 0/Khan et al., 2017