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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
Synpolydactyly 1 (SPD1, HOXD13) syndactyly, brachydactyly,polydactyly Autosomal Dominant 2q31.1 Nonsense HOXD13 742C>T Gln248* Premature Termination 2011/Kurban et al., 2011
Synpolydactyly 1 (SPD1, HOXD13) syndactyly, brachydactyly,polydactyly Autosomal Dominant 2q31.1 Duplication HOXD13 184_210dup expansion of +9 Ala 0/Wajid et al., 2009
Synpolydactyly 1 (SPD1, HOXD13) syndactyly, brachydactyly,polydactyly Autosomal Dominant 2q31.1 Duplication HOXD13 187_207dup expansion of +7 Ala 0/Wajid et al., 2009