Fibrosis Of Extraocular Muscles, Congenital, 5; Cfeom5

Clinical Features

Phenotypes and symptoms related to Fibrosis Of Extraocular Muscles, Congenital, 5; Cfeom5

  • Ptosis
  • Congenital ptosis

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 %

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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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