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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
MCPH3 (CDK5RAP2) Microcephaly Autosomal Recessive 9q33.2 Nonsense CDK5RAP2 246T>A Tyr82* Premature Termination 0/Hassan et al., 2007
MCPH3 (CDK5RAP2) Microcephaly Autosomal Recessive 9q33.2 Splice site CDK5RAP2 IVS26-15A>G Frame shift mutation 0/Bond et al., 2005
MCPH3 (CDK5RAP2) Microcephaly Autosomal Recessive 9q33.2 Nonsense CDK5RAP2 1279C>T Arg427* PTC 0/Ahmad et al., 2017