multiple mitochondrial dysfunctions syndrome 2
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013675), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
34 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of the pyruvate dehydrogenase complexHPOHP:0002928
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Epileptic encephalopathyHPOHP:0200134
Show the remaining 22
- LethargyHPOHP:0001254
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- TachypneaHPOHP:0002789
- 1 of 1 reported patient
- Abnormal CNS myelinationHPOHP:0011400
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
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.
- HGNC:24415HGNC:24415
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: multiple mitochondrial dysfunctions syndrome 2
- Also called
- BOLA3 deficiencyBOLA3 fatal multiple mitochondrial dysfunctions syndromefatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3multiple mitochondrial dysfunctions syndrome type 2