recessive mitochondrial ataxia syndrome
MONDO:0019791Mondo
Findings
No curated finding names recessive mitochondrial ataxia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of central motor conductionHPOHP:0012079
- Frequent (30% to 79% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Hashimoto thyroiditisHPOHP:0000872
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
Show the remaining 10
- Impaired vibratory sensationHPOHP:0002495
- Frequent (30% to 79% of cases)
- Increased circulating pyruvate concentrationHPOHP:0003542
- Frequent (30% to 79% of cases)
- Limb dysmetriaHPOHP:0002406
- Frequent (30% to 79% of cases)
- OphthalmoplegiaHPOHP:0000602
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Positive Romberg signHPOHP:0002403
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POLGHGNC:9179
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: recessive mitochondrial ataxia syndrome
- Also called
- MIRAS