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Congenital fibrosis of extraocular muscles
6 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Progressive supranuclear palsy - pure akinesia with gait freezing
1 associated gene
No signs/symptoms info
Congenital fibrosis of extraocular muscles
Progressive supranuclear palsy - pure akinesia with gait freezing

KIF21A
(UniProt - OMIM)
 MAPT
(UniProt - OMIM)
PHOX2A
(UniProt - OMIM)
TUBB2B
(UniProt - OMIM)
TUBB3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TUBB3
(0.84)
MAPT


Citations in the biomedical literature:


Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3
Progressive supranuclear palsy - pure akinesia with gait freezing
MAPT



Congenital fibrosis of extraocular muscles
Progressive supranuclear palsy - pure akinesia with gait freezing

Synonym(s):
- FEOM
Synonym(s):
- PSP-PAGF
- PSP-pure akinesia with gait freezing
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic
External references:
6 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.