mitochondrial complex 4 deficiency, nuclear type 25
MONDO:0980970Mondo
Findings
No curated finding names mitochondrial complex 4 deficiency, nuclear type 25 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
- Third trimester 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.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Elevated urine fumaric acid levelHPOHP:0034648
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
Show the remaining 10
- Increased circulating pyruvate concentrationHPOHP:0003542
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient
- Nasogastric tube feedingHPOHP:0040288
- 1 of 1 reported patient
- PolyneuropathyHPOHP:0001271
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient