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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
Infantile Malignant Osteopetrosis(CLCN7) abnormal bone remodelling Autosomal Recessive 16p13.3 Missense Mutation ?CLCN7 610A>T Ser204Trp Amino acid substitution 0/Khan MA et.al.,,,2018
Osteopetrosis-Infantile Malignant(CLCN7) abnormal bone remodelling Autosomal Recessive 16p13.3 Missense Mutation CLCN7 610A>T Ser204Trp Amino acid substitution 0/Khan MA et.al.,,2018