Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome; Rdjcss

Genes related to Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome; Rdjcss

RDH11

Clinical Features

Top most frequent phenotypes and symptoms related to Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome; Rdjcss

Global developmental delay
Short stature
Pica
Motor delay
Abnormal facial shape
Cataract
Tics
Malar flattening
Rod-cone dystrophy
Upslanted palpebral fissure

And another 8 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome; Rdjcss Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Retinitis pigmentosa (NGS panel for 72 genes). By CGC Genetics in Portugal. ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...) View the complete list with 52 more genes Panel GTR000525246 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, CYP4V2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GNPTG, DHX38, RBP4, PRPF4, NEK2, ARL2BP, ADGRA3, KIAA1549, ECM1, TUB, RDH11 Specificity 2 % Genes 100 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes). By CGC Genetics in Portugal. ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...) View the complete list with 33 more genes Panel GTR000525283 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, CYP4V2, BBS1, MAK, NR2E3, RBP3, NMNAT1, GNPTG, DHX38, RBP4, EMC1, NEK2, ARL2BP, ADGRA3, KIAA1549, TUB, RDH11 Specificity 2 % Genes 100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...) View the complete list with 285 more genes Panel GTR000552334 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, AHI1, PNPLA6, ISPD, LARGE1, HCN1, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, WDR35, MVK, ABCC6, GNPTG, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, IFT43, CEP41, CPLANE1, IFT80, ARL13B, B9D2, VSX2, SLC25A46, TCTN3, IFT172, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, CEP83, LRP2, PLK4, TUBGCP4, TUBGCP6, COL18A1, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, RCBTB1, KIAA1549, CEP78, PEX11B, VCAN, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, IFT88, PRDM13, IFT81, MIR204, NXNL1, REEP6, SLC4A7, CEP250, CFAP57, OR2W3, ACBD5 Specificity 1 % Genes 100 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel. By CeGaT GmbH in Germany. ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...) View the complete list with 42 more genes Panel GTR000522426 complete gene list ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, PRPF31, RP2, HGSNAT, CYP4V2, BBS1, BBS2, MAK, NR2E3, RBP3, NMNAT1, GNPTG, DHX38, RBP4, EMC1, ZNF408, KIZ, SLC7A14, NEK2, ARL2BP, IFT172, ADGRA3, KIAA1549, TUB, RDH11 Specificity 2 % Genes 100 %
Retinal Dystrophy Panel. By Molecular Vision Laboratory in United States. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...) View the complete list with 267 more genes Panel GTR000522537 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, AHI1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, ABCC6, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, MT-ND4L, MT-TH, MT-TV, B9D2, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, ADAMTS18, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, ACBD5, RHEX, DGKQ, CKAP4 Specificity 1 % Genes 100 %
MVL Vision Panel. By Molecular Vision Laboratory in United States. ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...) View the complete list with 248 more genes Panel GTR000559625 complete gene list ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, MT-ND4L, MT-TH, MT-TV, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, RHEX, DGKQ, CKAP4 Specificity 1 % Genes 100 %
RDH11. By Fulgent Genetics Fulgent Genetics in United States. RDH11 Specificity 100 % Genes 100 %
Retinal Dystrophy Panel. By Blueprint Genetics in Finland. ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...) View the complete list with 240 more genes Panel GTR000552782 complete gene list ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CLN3, ALMS1, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, MTTP, PEX2, PEX7, PEX1, TTPA, TMEM216, AHI1, PNPLA6, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, GNPTG, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, GNB3, LRIT3, GPR179, DTHD1, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, DHX38, SPP2, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, BBIP1, WDPCP, SDCCAG8, KIF11, CTC1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, SLC25A46, TCTN3, IFT172, CEP104, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, LRP2, COL18A1, RTN4IP1, CWC27, ARHGEF18, SAMD11, CEP78, PEX11B, VCAN, ATOH7, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, PRDM13, IFT81, REEP6, ARMC9 Specificity 1 % Genes 100 %

Alternate names

Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome; Rdjcss Is also known as ;retinal dystrophy-juvenile cataract-short stature syndrome.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE HEMOCHROMATOSIS, TYPE 1; HFE1 INCONTINENTIA PIGMENTI HEREDITARY BREAST AND OVARIAN CANCER SYNDROME AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD