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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
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Nonsense CDH23 1114C>T Gln372* Premature Termination Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Splice site CDH23 2587+1G>A Frame shift mutation Bork et al., 2001/2001
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Nonsense CDH23 Arg1305* Premature Termination Bork et al., 2001/2001
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Insertion/Deletion CDH23 3106_3106+11delinsTGGT Gly1036delinsTrpCys Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 CDH23 6050-9G>A Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Splice site CDH23 6050-1G>C Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Deletion CDH23 6054_6074del Val2019_Val2025del Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Deletion CDH23 6845del Asn2282Thrfs*91 Frame shift mutation & PTC Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Missense CDH23 7198C>T Pro2400Ser Amino Acid Substitution Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Missense CDH23 8150A>G Asp2717Gly Amino Acid Substitution Schultz et al., 2011/2011
Usher Syndrome type 1D (CDH23) Hearing loss, RP Autosomal Recessive 10q22.1 Deletion CDH23 8208_8209del Val2737Alafs*2 Frame shift mutation & PTC Schultz et al., 2011/2011