Geleophysic Dysplasia 3; Gphysd3

Clinical Features

Top most frequent phenotypes and symptoms related to Geleophysic Dysplasia 3; Gphysd3

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly
  • Wide nasal bridge
  • Anteverted nares
  • Long philtrum
  • Pneumonia
  • Respiratory failure

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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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Geleophysic Dysplasia 3; Gphysd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene).

By CGC Genetics (Portugal).

LTBP3
Specificity
100 %
Genes
100 %
Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene).

By CGC Genetics (Portugal).

LTBP3
Specificity
100 %
Genes
100 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20
Specificity
6 %
Genes
100 %
Dental Anomalies and Amelogenesis Imperfecta via LTBP3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LTBP3
Specificity
100 %
Genes
100 %
Tooth Agenesis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNT10A, EDARADD, EDAR, EDA, LTBP3, MSX1, PAX9, AXIN2
Specificity
13 %
Genes
100 %
Oligodontia - Selective tooth agenesis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
Oligodontia - Selective tooth agenesis NGS panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
Oligodontia - Selective tooth agenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %

We have 11 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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