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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
Osteopetrosis Infantile (TCIRG1) increased bone density Autosomal Recessive 11q13.2 Deletion TCIRG1 624delC Pro208ProfsX1 FS & PTC 0/Ajmal et al., 2017