Fibrosis of extraocular muscles, congenital, 5

Summary

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene. [from MONDO]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

COL25A1
13 tests
Also known as: AMY, CFEOM5, CLAC, CLAC-P, CLACP, COL25A1
Summary: collagen type XXV alpha 1 chain

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Duane retraction syndrome
  Duane retraction syndrome
  - MedGen UID: 4413
  - Concept ID: C0013261
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature
- Ptosis
  Ptosis
  - MedGen UID: 2287
  - Concept ID: C0005745
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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