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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
MCPH14 (SASS6) Microcephaly Autosomal Recessive 1p21.2 Missense SASS6 185T>C Ile62Thr Amino Acid Substitution 2014/Khan et al., 2014