Cone-rod Dystrophy And Hearing Loss; Crdhl

Clinical Features

Top most frequent phenotypes and symptoms related to Cone-rod Dystrophy And Hearing Loss; Crdhl

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness
  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia
  • Progressive visual loss

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cone-rod Dystrophy And Hearing Loss; Crdhl Recommended genes panels

Panel Name, Specifity and genes Tested/covered
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
CEP78.

By Fulgent Genetics Fulgent Genetics (United States).

CEP78
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics (Finland).

BCS1L, RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, SUCLA2, SUCLG1, TWNK, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3 , (...)

View the complete list with 157 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)

View the complete list with 239 more genes
Specificity
1 %
Genes
100 %
Usher Syndrome Panel.

By Blueprint Genetics (Finland).

USH1C, USH2A, CLRN1, CDH23, PCDH15, ABHD12, USH1G, WHRN, ADGRV1, CIB2, CEP78, PDZD7, HARS, MYO7A, PEX1
Specificity
7 %
Genes
100 %
Cone Rod Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
CONE-ROD DYSTROPHY.

By Laboratorio de Genetica Clinica SL (Spain).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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