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Human Disease

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Term ID
DOID:0111276
Synonyms
  • autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
  • SANDO
Definition
A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (3)
References
(all 5)
Ontology
Human Disease   ( DOID:0111276 )
Relationships
is a type of
Other Pages
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
POLGMitochondrial recessive ataxia syndrome (includes SANDO and SCAE)sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459
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Zebrafish Models