Cerebrooculofacioskeletal Syndrome 2; Cofs2

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebrooculofacioskeletal Syndrome 2; Cofs2

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cataract
  • Flexion contracture
  • Intrauterine growth retardation
  • Microphthalmia
  • Micropenis

And another 12 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.


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Cerebrooculofacioskeletal Syndrome 2; Cofs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
ERCC2.

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

ERCC2
Specificity
100 %
Genes
100 %
ERCC2. Complete sequencing.

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

ERCC2
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Trichothiodystrophy (sequence analysis of ERCC2 gene).

By CGC Genetics (Portugal).

ERCC2
Specificity
100 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Trichothiodystrophy (NGS panel of 5 genes).

By CGC Genetics (Portugal).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3
Specificity
20 %
Genes
100 %
Xeroderma Pigmentosum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH
Specificity
12 %
Genes
100 %

We have 68 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA MYOPATHY, DISTAL, 4; MPD4 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH KABUKI SYNDROME 1; KABUK1

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