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Autosomal recessive ataxia, Beauce type
1 OMIM reference -
1 associated gene
39 connected diseases
1 sign/symptom
Disease Type of connection
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive myogenic arthrogryposis multiplex congenita
Left ventricular noncompaction
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Postsynaptic congenital myasthenic syndromes
X-linked Emery-Dreifuss muscular dystrophy
17q11 microdeletion syndrome
APC-related attenuated familial adenomatous polyposis
Autosomal recessive primary microcephaly
Burkitt lymphoma
Desmoid tumor
Estrogen resistance syndrome
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Hermansky-Pudlak syndrome type 7
Precursor T-cell acute lymphoblastic leukemia
Turcot syndrome with polyposis
Weaver syndrome
Atrial septal defect, ostium secundum type
Familial isolated dilated cardiomyopathy
Synonym(s):
- ARCA1
- Autosomal recessive cerebellar ataxia type 1
- SCAR8
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SYNE1 Q8NF91608441
Very frequent
- Ataxia / incoordination / trouble of the equilibrium