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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
MCPH9 (CEP152) Microcephaly Autosomal Recessive 15q21.1 Missense CEP152 3149T>C Leu1050Pro Amino Acid Substitution 2013/Hussain et al., 2013
MCPH9 (CEP152) Microcephaly Autosomal Recessive 15q21.1 Deletion CEP152 3676-3678delAAC Asn1226deL Frame shift mutation 2013/Hussain et al., 2013