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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
Trichothiodystrophy 4 Nonphotosensitive (MPLKIP) Hair abnormalities,ID,nail dystrophy, etc Autosomal Recessive 7p14.1 Splice site MPLKIP 339+1G > A Frame shift mutation & PTC 0/Shah et al., 2016