Cone-rod Dystrophy 3; Cord3

Clinical Features

Phenotypes and symptoms related to Cone-rod Dystrophy 3; Cord3

  • Visual loss
  • Retinal degeneration
  • Abnormality of skin pigmentation
  • Cone/cone-rod dystrophy
  • Abnormality of color vision
  • Scotoma
  • Central scotoma

Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including infantile onset, infantile onset, and infantile 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.


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Cone-rod Dystrophy 3; Cord3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
ABCA4 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABCA4
Specificity
100 %
Genes
100 %
ABCA4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABCA4
Specificity
100 %
Genes
100 %
ABCA4 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ABCA4
Specificity
100 %
Genes
100 %
ABCA4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABCA4
Specificity
100 %
Genes
100 %
ABCA4 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

ABCA4
Specificity
100 %
Genes
100 %
ABCA4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ABCA4
Specificity
100 %
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 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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