mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MONDO:0044714Mondo
Findings
No curated finding names mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
47 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 globe sizeHPOHP:0100887
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DysdiadochokinesisHPOHP:0002075
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Frequent (30% to 79% of cases)
Show the remaining 35
- Gowers signHPOHP:0003391
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HyperthyroidismHPOHP:0000836
- 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.
- MSTO1HGNC:29678
- Definitive · Broad Center for Mendelian Genomics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Also called
- mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome