Cone Dystrophy 4; Cod4
Clinical Features
Top most frequent phenotypes and symptoms related to Cone Dystrophy 4; Cod4
- Nystagmus
- Visual impairment
- Reduced visual acuity
- Photophobia
- Cone/cone-rod dystrophy
- Abnormality of color vision
- Scotoma
- Central scotoma
- Congenital nystagmus
- Dyschromatopsia
And another 4 symptoms. If you need more information about this disease we can help you.
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 Dystrophy 4; Cod4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Achromatopsia - PDE6C Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
PDE6C
Specificity
100 %
Genes
100 % |
PDE6C.
By Institute for Human Genetics University Clinic Freiburg (Germany).
PDE6C
Specificity
100 %
Genes
100 % |
PDE6C. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
PDE6C
Specificity
100 %
Genes
100 % |
Achromatopsia 2 (sequence analysis of PDE6C gene).
By CGC Genetics (Portugal).
PDE6C
Specificity
100 %
Genes
100 % |
Cone-rod dystrophy (NGS panel of 36 genes).
By CGC Genetics (Portugal).
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 15 more genes
Specificity
3 %
Genes
100 % |
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGB3, ADAM9, CERKL, CRX , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
You can get up to 35 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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