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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
Nail Dysplasia Type 4 (anonychia/hyponychia) Absence or severe hypoplasia of nails Autosomal Recessive 20p13 Missense RSPO4 3G>A Met1Ile Amino Acid Substitution 2008/Ishii et al., 2008
Nail Dysplasia Type 4 (anonychia/hyponychia) Absence or severe hypoplasia of nails Autosomal Recessive 20p13 Splice site RSPO4 IVS2-1G>A Skipping exon 2 Frame shift mutation & PTC 2008/Ishii et al., 2008
Nail Dysplasia Type 4 (anonychia/hyponychia) Absence or severe hypoplasia of nails Autosomal Recessive 20p13 Missense RSPO4 353G>A Cys118Tyr Amino Acid Substitution 2006/Blaydon et al., 2006
Nail Dysplasia Type 4 (anonychia/hyponychia) Absence or severe hypoplasia of nails Autosomal Recessive 20p13 Missense RSPO4 199G>C Gly67Arg Amino Acid Substitution 2009/Chishti et al., 2009
Nail Dysplasia Type 4 (anonychia/hyponychia) Absence or severe hypoplasia of nails Autosomal Recessive 20p13 Missense RSPO4 178C>T Arg60Trp Amino Acid Substitution 2012/Khan et al., 2012
Nail Dysplasia Type 4 (anonychia/hyponychia) Absence or severe hypoplasia of nails Autosomal Recessive 20p13 Nonsense RSPO4 18C>A Cys6* Premature Termination 2013/Wasif & Ahmad, 2013