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

• MESH:C537583
• OMIM:607459
• ORDO:70595
• SNOMEDCT_US_2023_03_01:717266001
• UMLS_CUI:C1843851

Ontology

Human Disease   ( DOID:0111276 )