Cerebellar atrophy - ataxia - seizures (Q94017): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Changed an Item
‎Changed an Item
Property / Knowledge Architect
 
Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank
 
Normal rank

Revision as of 09:07, 16 August 2026

Autosomal recessive ataxia due to ubiquinone deficiency is a mitochondrial disease characterised by childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.
Language Label Description Also known as
default for all languages
ID_1244147456
    English
    Cerebellar atrophy - ataxia - seizures
    Autosomal recessive ataxia due to ubiquinone deficiency is a mitochondrial disease characterised by childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.

      Statements

      CID11:ID_1244147456
      0 references
      dki-india-ID_1244147456
      0 references
      Concluído
      0 references