×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Ataxia/Dystonia(ATCAY) dystonic signs,generalized dystonia Autosomal Recessive 19p13.3 Frameshift Mutation ATCAY 599_605del Pro200Profs*20 Deletion 0/Manzoor H et.al.,,,2018