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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
MCPH8 (CEP135) Microcephaly Autosomal Recessive 4q12 Deletion CEP135 970delC Gln324Serfs*2 Frame shift mutation & PTC 2012/Hussain et al., 2012