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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
RBBP8 syndrome (RBBP8) MCP,ID,skeletal,limb &ectodermal defect Autosomal Recessive 18p11.21-q12.1 Deletion RBBP8 1808_1809delTA Ile603Lysfs*7 Frame shift mutation & PTC Mumtaz et al., 2008/2008
RBBP8 syndrome (RBBP8) MCP,hyponychia,epilepsy, diabetes, ID Autosomal Recessive 18 p11.21-q12.1 Missense RBBP8 919A>G Arg307Gly Amino Acid Substitution Agha et al., 2014/2014