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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Alopecia,dentogingival & ID (ITGB6) Alopecia, ID & dentogingival defects Autosomal Recessive 2q24.1-q31.1 Missense ITGB6 898G4A Glu300Lys Amino Acid Substitution Ansar et al., 2015/2015