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6 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
No signs/symptoms info
Congenital fibrosis of extraocular muscles
Combined deficiency of factor V and factor VIII

KIF21A LMAN1
PHOX2A MCFD2
TUBB2B
TUBB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB3
(0.63)
LMAN1



Citations in the biomedical literature:


Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3
Combined deficiency of factor V and factor VIII
LMAN1 MCFD2



Congenital fibrosis of extraocular muscles
Combined deficiency of factor V and factor VIII

Synonym(s):
- FEOM

Synonym(s):
- F5F8D
- FV and FVIII combined deficiency
- Familial multiple coagulation factor deficiency

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references

No signs/symptoms info available.