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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
Muscular D-dystroglycanopathy type A7(MDDGA7,ISPD) LGMD,CMD with cerebral & ocular Autosomal Recessive 7p21.2 Missense ISPD 367G>A Gly123Arg Amino Acid Substitution 0/Baranello et al., 2015