Microphthalmia, Isolated, With Coloboma 6; Mcopcb6

Clinical Features

Phenotypes and symptoms related to Microphthalmia, Isolated, With Coloboma 6; Mcopcb6

  • Nystagmus
  • Visual impairment
  • Microphthalmia
  • Coloboma
  • Iris coloboma
  • Hypoplasia of the fovea
  • Bilateral microphthalmos
  • Rotary nystagmus
  • Optic disc hypoplasia
  • Abnormal temporal bone morphology

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.

Microphthalmia, Isolated, With Coloboma 6; Mcopcb6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leber Congenital Amaurosis Panel.

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

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
GDF6 - Klippel Feil syndrome.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

GDF6
Specificity
100 %
Genes
50 %
GDF6. Complete sequencing.

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

GDF6
Specificity
100 %
Genes
50 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics (Portugal).

RPE65, TULP1, RPGRIP1, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GDF6, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2, PRPH2
Specificity
5 %
Genes
50 %
Klippel-Feil syndrome (sequence analysis of GDF6 gene).

By CGC Genetics (Portugal).

GDF6
Specificity
100 %
Genes
50 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics (Portugal).

BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics (Portugal).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
40 %
Genes
100 %

You can get up to 51 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

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