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6 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital fibrosis of extraocular muscles
Atelosteogenesis type I

KIF21A FLNB
PHOX2A
TUBB2B
TUBB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIF21A
(0.63)
FLNB



Citations in the biomedical literature:


Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3
Atelosteogenesis type I
FLNB



Congenital fibrosis of extraocular muscles
Atelosteogenesis type I

Synonym(s):
- FEOM

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535396

No signs/symptoms info available.