mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
MONDO:0957255Mondo
Findings
No curated finding names mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
9 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.
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Refractory status epilepticusHPOHP:0032867
- 1 of 1 reported patient
- Secondary microcephalyHPOHP:0005484
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
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.
- ATP5POHGNC:850
- Strong · PanelApp Australia · Autosomal recessive · 2025