combined oxidative phosphorylation deficiency 60
MONDO:0978298Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 60 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
- Congenital onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
51 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.
- Abnormal emotional stateHPOHP:0100851
- 1 of 1 reported patient
- Abnormal facial shapeHPOHP:0001999
- 1 of 1 reported patient
- Aplasia of the ovaryHPOHP:0010463
- 1 of 1 reported patient
- Aplasia of the uterusHPOHP:0000151
- 1 of 1 reported patient
- Aplasia of the vaginaHPOHP:0003250
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Atypical behaviorHPOHP:0000708
- 1 of 1 reported patient
- CollectionismHPOHP:0030212
- 1 of 1 reported patient
- Craniofacial dystoniaHPOHP:0012179
- 1 of 1 reported patient
- Decreased serum estradiolHPOHP:0008214
- 2 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 2 of 2 reported patients
Show the remaining 39
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 2 of 2 reported patients
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HallucinationsHPOHP:0000738
- 1 of 1 reported patient
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 1 reported patient
- HyperkalemiaHPOHP:0002153
- 1 of 1 reported patient