Achromatopsia 3; Achm3

Clinical Features

Top most frequent phenotypes and symptoms related to Achromatopsia 3; Achm3

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia
  • Blindness
  • Photophobia
  • Small hand
  • High myopia
  • Severe vision loss

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Achromatopsia 3; Achm3 Is also known as total colorblindness with myopia, rod monochromatism 1, formerly, achm1, formerly, rod monochromacy 1, formerly, rmch1, formerly, pingelapese blindness, achromatopsia with myopia.

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.

Achromatopsia 3; Achm3 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 %
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 %
Macular Degeneration Panel.

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

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Achromatopsia Type - CNGB3 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

CNGB3
Specificity
100 %
Genes
100 %
Acromatopsia, CNGA3/CNGB3, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

CNGA3, CNGB3
Specificity
50 %
Genes
100 %
CNGB3.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CNGB3
Specificity
100 %
Genes
100 %
CNGB3 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

CNGB3
Specificity
100 %
Genes
100 %
CNGB3. Detection of the mutation c.1148delC by sequencing.

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

CNGB3
Specificity
100 %
Genes
100 %

You can get up to 59 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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