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Autosomal recessive ataxia due to ubiquinone deficiency

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Name:
Autosomal recessive ataxia due to ubiquinone deficiency
Description:
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
ORPHAcode:
139485
Synonyms:
ARCA2
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive spinocerebellar ataxia type 9
SCAR9
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
COQ8A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14