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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
No signs/symptoms info
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Combined deficiency of factor V and factor VIII

TUBB3 LMAN1
MCFD2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
Combined deficiency of factor V and factor VIII
LMAN1 MCFD2



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Combined deficiency of factor V and factor VIII

Synonym(s):
(no synonyms)

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

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.