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6 OMIM references -
4 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

KIF21A TUBB3
PHOX2A
TUBB2B
TUBB3


COMMON
GENES
TUBB3



Citations in the biomedical literature:


Congenital fibrosis of extraocular muscles
KIF21A PHOX2A TUBB2B TUBB3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation



Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Synonym(s):
- FEOM

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.