×

Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Ataxia-telangiectasia-like (ATLD1, MRE11A) Developmental delay, ataxia & HI Autosomal Recessive 11q21 Nonsense MRE11A 1897C>T Arg633* Premature Termination Stewart et al., 1999/1999
Ataxia-telangiectasia-like (ATLD1, MRE11A) evelopmental delay, ataxia & HI etc Autosomal Recessive 11q21 Nonsense MRE11A 897C>T Arg633* Premature Termination Chaki et al., 2012/2012