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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
Split Hand/Foot Malformation Type 6 Typical SHFM Autosomal Recessive 12q13.12 Missense WNT10B 986C>G Thr329Arg Amino Acid Substitution 0/Khan et al., 2012
Split Hand/Foot Malformation Type 6 (WNT10B) split hands & feet Autosomal Recessive 12q13.12 Missense WNT10B 986C>G Thr329Arg Amino Acid Substitution 0/Khan et al., 2012
Split Hand/Foot Malformation Type 6 (WNT10B) split hands & feet Autosomal Recessive 12q13.12 Deletion WNT10B 1165_1168delAAGT Frame shift mutation & PTC 0/Aziz et al., 2014
Split Hand/Foot Malformation Type 6 (WNT10B) split hands & feet Autosomal Recessive 12q13.12 Duplication WNT10B 300_306dupAGGGCGG Frame shift mutation & PTC 0/Aziz et al., 2014
Split Hand/Foot Malformation Type 6 (WNT10B) Split-hand/split-foot Autosomal Recessive 12p11.1?q13.13 Nonsense WNT10B 460C>G Gln154* PTC 0/Ullah et al., 2018