mitochondrial complex IV deficiency, nuclear type 16
MONDO:0033651Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients · Infantile onset
- Elevated CSF fumarate concentrationHPOHP:0033503
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 2 of 2 reported patients · Childhood onset
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
Show the remaining 13
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Prominent nasal bridgeHPOHP:0000426
- 1 of 1 reported patient
- Short 5th fingerHPOHP:0009237
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Hyperactive patellar reflexHPOHP:0007083
- 1 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 2 reported patients
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.
- COX4I1HGNC:2265
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 16
- Also called
- MC4DN16