multiple mitochondrial dysfunctions syndrome 10
MONDO:0975806Mondo
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
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.
- Achilles tendon contractureHPOHP:0001771
- 4 of 4 reported patients
- Axial muscle weaknessHPOHP:0003327
- 4 of 4 reported patients
- Calf muscle pseudohypertrophyHPOHP:0003707
- 3 of 3 reported patients
- Easy fatigabilityHPOHP:0003388
- 4 of 4 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 4 reported patients
- MetrorrhagiaHPOHP:0100608
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 4 of 4 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 4 of 4 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 4 of 4 reported patients
- Specific learning disabilityHPOHP:0001328
- 4 of 4 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 4 reported patients
Show the remaining 10
- Distal muscle weaknessHPOHP:0002460
- 3 of 4 reported patients
- OverweightHPOHP:0025502
- 3 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- ConstipationHPOHP:0002019
- 1 of 4 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 4 reported patients
- High palateHPOHP:0000218
- 1 of 4 reported patients
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.
- CIAO1HGNC:14280
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025