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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
MCPH1 Microcephaly Autosomal Recessive 8p23.1 Deletion MCPH1 1179delG Arg393Serfs*50 Frame shift mutation & PTC 2013/Hussain et al., 2013
MCPH1 Microcephaly Autosomal Recessive 8p23.1 Nonsense MCPH1 74C>G Ser25* Premature Termination 2002/Jackson et al., 2002
MCPH1 Craniosynostosis-MCP with chromose breakage Autosomal Recessive 8p23.1 Nonsense MCPH1 302C>G Ser101* Premature Termination 0/Farooq et al., 2010
MCPH1 Microcephaly Autosomal Recessive 8p23.1 Deletion MCPH1 1-160,656_ 114+892del164250 Met1_Asn95del Deletion 0/Ahmad et al., 2017
MCPH1 Microcephaly Autosomal Recessive 8p23.1 Deletion MCPH1 1-493520_ 2137-9110del577594 Met1_Ala761del deletion 0/Ahmad et al., 2017