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Autosomal recessive spastic ataxia of Charlevoix-Saguenay
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Congenital analbuminemia
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Burkitt lymphoma
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Precursor T-cell acute lymphoblastic leukemia
Angelman syndrome
Synonym(s):
- ARSACS

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536787

Gene symbol UniProt reference OMIM reference
SACS Q9NZJ4604490
No signs/symptoms info available.