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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
MCPH6 (CENPJ) Microcephaly Autosomal Recessive 13q12.12-q12.13 Deletion CENPJ 3243?3246delTCAG Frame shift mutation 2006/Gul et al., 2006
MCPH6 (CENPJ) Microcephaly Autosomal Recessive 13q12.12-q12.13 Deletion CENPJ 18delC Ser7Profs*2 Frame shift mutation & PTC 2013/Hussain et al., 2013