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Early-onset ataxia with oculomotor apraxia and hypoalbuminemia MeSH Supplementary Concept Data 2025


MeSH Supplementary
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
Unique ID
C538013
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538013
Entry Term(s)
Ataxia, Adult-Onset, With Oculomotor Apraxia
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia-oculomotor apraxia 1
Ataxia-oculomotor apraxia syndrome
Ataxia-telangiectasia-like syndrome
Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia
Early-onset cerebellar ataxia with hypoalbuminemia
Registry Numbers
0
Previous Indexing
*ATAXIA TELANGIECTASIA (2010-2015)
Heading Mapped to
*Apraxias
Cerebellar Ataxia / congenital
*Hypoalbuminemia
Frequency
13
Note
An early-onset autosomal recessive cerebellar ataxia characterized by peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia. Mutations in the APTX gene have been identified. OMIM: 208920
Date of Entry
2010/08/25
Revision Date
2016/07/07
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Preferred
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