mitochondrial complex IV deficiency, nuclear type 15
MONDO:0033650Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 15 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
- Death in adolescence
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.
- Atonic seizureHPOHP:0010819
- 1 of 1 reported patient · Juvenile onset
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient · Infantile onset
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient · Juvenile onset
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- HyperglycinemiaHPOHP:0002154
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
Show the remaining 10
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient · Infantile onset
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient · Juvenile onset
- Nasogastric tube feeding in infancyHPOHP:0011470
- 1 of 1 reported patient · Infantile onset
- Pigmentary retinopathyHPOHP:0000580
- 1 of 1 reported patient
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 1 reported patient · Infantile onset
- ScoliosisHPOHP:0002650
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.
- COX8AHGNC:2294
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 15
- Also called
- MC4DN15