Microphthalmia, Syndromic 12; Mcops12

Clinical Features

Top most frequent phenotypes and symptoms related to Microphthalmia, Syndromic 12; Mcops12

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Spasticity
  • Feeding difficulties
  • Delayed speech and language development

And another 24 symptoms. If you need more information about this disease we can help you.

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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

Microphthalmia, Syndromic 12; Mcops12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects.

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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Microphthalmia, Syndromic 12; Mcops12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
4 %
Genes
100 %
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
4 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
100 %
Microphthalmy Panel.

By CeGaT GmbH (Germany).

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
4 %
Genes
100 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC (Estonia).

BMP4, SIX6, SOX2, VAX1, VSX1, MFRP, RAX, VSX2, B3GLCT, SMOC1, CHD7, BCOR, COL4A1, CYP1B1, TENM3, STRA6, SLC38A8, EYA1, FOXC1, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory (United States).

BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
RARB.

By Fulgent Genetics Fulgent Genetics (United States).

RARB
Specificity
100 %
Genes
100 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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