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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
Robinow syndrome (ROR2) short-limbed dwarfism etc Autosomal Recessive 9q21?q23 Deletion ROR2 1740?1774del Asp580fs*124 Frame shift mutation van Bokhoven et al., 2000/2000
Robinow syndrome (ROR2) short-limbed dwarfism,dysmorphic face etc Autosomal Recessive 9q21?q23 Missense ROR2 565C>T Arg189Trp Amino Acid Substitution Afzal et al., 2000/2000
Robinow syndrome (ROR2) short-limbed dwarfism,dysmorphic face etc Autosomal Recessive 9q21?q23 Missense ROR2 1096C>T Arg366Trp Amino Acid Substitution Afzal et al., 2000/2000