×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Syndactyly Type IX (Malik-Percin Type,BHLHA9) Nonsyndromic digit anomaly Autosomal Recessive 17p13.3 Missense BHLHA9 211A>G Asn71Asp Amino Acid Substitution 0/Malik et al., 2014
Syndactyly Type IX (Malik-Percin Type,BHLHA9) Nonsyndromic digit anomaly Autosomal Recessive 17p13.3 Missense BHLHA9 218G>C Arg73Pro Amino Acid Substitution 0/Malik et al., 2014
Syndactyly Type IV (Haas Type, ZRS,LMBR1) triphalangeal thumb,polydactyly & syndactyly Autosomal Dominant 7q36 Missense ZRS, LMBR1 287C>A 0/VanderMeer et al., 2012