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Lethal arteriopathy syndrome due to FBLN4 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Benign paroxysmal torticollis of infancy
1 associated gene
No signs/symptoms info
Lethal arteriopathy syndrome due to FBLN4 deficiency
Benign paroxysmal torticollis of infancy

EFEMP2
(UniProt - OMIM)
 CACNA1A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EFEMP2
(0.63)
CACNA1A


Citations in the biomedical literature:


Lethal arteriopathy syndrome due to FBLN4 deficiency
EFEMP2
Benign paroxysmal torticollis of infancy
CACNA1A



Lethal arteriopathy syndrome due to FBLN4 deficiency
Benign paroxysmal torticollis of infancy

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
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 recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.