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1 OMIM reference -
1 associated gene
1 sign/symptom
COMMON GENES: 1
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita

SYNE1 SYNE1


COMMON
GENES
SYNE1



Citations in the biomedical literature:


Autosomal recessive ataxia, Beauce type
SYNE1
Autosomal recessive myogenic arthrogryposis multiplex congenita



Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita

Synonym(s):
- ARCA1
- Autosomal recessive cerebellar ataxia type 1
- SCAR8

Synonym(s):
- Autosomal recessive myogenic AMC
- SYNE1-related AMC
- SYNE1-related arthrogryposis multiplex congenita

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

Autosomal recessive ataxia, Beauce type

Very frequent
- Ataxia / incoordination / trouble of the equilibrium



Autosomal recessive myogenic arthrogryposis multiplex congenita

(no data available)