Newfoundland Rod-cone Dystrophy; Nfrcd

Clinical Features

Phenotypes and symptoms related to Newfoundland Rod-cone Dystrophy; Nfrcd

  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal dystrophy
  • Cone/cone-rod dystrophy
  • Abnormality of color vision
  • Scotoma

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.

Newfoundland Rod-cone Dystrophy; Nfrcd 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 %
RLBP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
RLBP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
RLBP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
RLBP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RLBP1
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
RLBP1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

RLBP1
Specificity
100 %
Genes
100 %

You can get up to 44 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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