Fibrosis Of Extraocular Muscles, Congenital, 5; Cfeom5

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.

Fibrosis Of Extraocular Muscles, Congenital, 5; Cfeom5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Fibrosis of extraocular muscles, congenital (sequence analysis of COL25A1 gene). By CGC Genetics (Portugal). COL25A1 Specificity 100 % Genes 100 %
Fibrosis of extraocular muscles, congenital (sequence analysis of COL25A1 gene). By CGC Genetics (Portugal). COL25A1 Specificity 100 % Genes 100 %
COL25A1. By Fulgent Genetics Fulgent Genetics (United States). COL25A1 Specificity 100 % Genes 100 %
Congenital Extraocular Muscles Fibrosis Type 5 , Sequencing COL25A1 Gene. By Reference Laboratory Genetics (Spain). COL25A1 Specificity 100 % Genes 100 %
Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics (Spain). COL25A1, KIF21A, TUBB3, PHOX2A Specificity 25 % Genes 100 %

Sources and references

You can check the following sources for additional information.

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