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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
Intellectual Disability (GPR56) abnormal cortical lamination, ID etc Autosomal recessive 16q21 Missense Mutation GPR56 1460T>C Leu487Pro Amino Acid Substitution 0/Sawal et al., 2018
Intellectual Disability (GPR56) abnormal cortical lamination, ID etc Autosomal Recessive 16q21 Frameshift Mutation GPR56 803_804insCCATGGAGGTGCT Leu269Hisfs21 Insertion Mutation and PTC 0/Sawal et al.,,2018
Intellectual Disability (GPR56) abnormal cortical lamination, ID etc Autosomal Recessive 16q21 Missense Mutation GPR56 1426C>T Arg476 Missense Mutation and PTC 0/Sawal et al.,,2018