Microcephaly And Chorioretinopathy, Autosomal Recessive, 3; Mccrp3

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly And Chorioretinopathy, Autosomal Recessive, 3; Mccrp3

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape
  • Visual impairment
  • Downslanted palpebral fissures
  • Hypoplasia of the corpus callosum
  • Microphthalmia
  • Reduced visual acuity
  • Macrotia

And another 7 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.

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.

Microcephaly And Chorioretinopathy, Autosomal Recessive, 3; Mccrp3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
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 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 265 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
TUBGCP4.

By Fulgent Genetics Fulgent Genetics (United States).

TUBGCP4
Specificity
100 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics (Finland).

STIL, PLK4, VRK1, XRCC4, GFM1, CASK, PCNT, TUBGCP4, STAMBP, CENPJ, NDE1, EXOSC3, TUBGCP6, CENPF, RTTN, CDK5RAP2, ASPM, MBD5, RARS2, WDR62 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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