Cytoscape Web
Click node...


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

TUBB3 KIF21A
PHOX2A
TUBB2B
TUBB3


COMMON
GENES
TUBB3



Citations in the biomedical literature:


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



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

Synonym(s):
(no synonyms)

Synonym(s):
- FEOM

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

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

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

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

No signs/symptoms info available.