MeSH Browser

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 MeSH Supplementary Concept Data 2025