mitochondrial complex IV deficiency, nuclear type 21
MONDO:0033656Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 21 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
HPO, annotations 2026-09-02
Features
18 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
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Increased CSF lactateHPOHP:0002490
- 2 of 2 reported patients
- Increased intramyocellular lipid dropletsHPOHP:0012240
- 3 of 3 reported patients
- Lactic acidosisHPOHP:0003128
- 4 of 4 reported patients · Congenital onset
- DystoniaHPOHP:0001332
- 3 of 4 reported patients
- AtaxiaHPOHP:0001251
- 2 of 4 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 2 of 4 reported patients
- Motor delayHPOHP:0001270
- 2 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- MyoclonusHPOHP:0001336
- 1 of 4 reported patients
- Babinski signHPOHP:0003487
Show the remaining 6
- Brisk reflexesHPOHP:0001348
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- Increased CSF alanine concentrationHPOHP:0500233
- Increased variability in muscle fiber diameterHPOHP:0003557
- Short statureHPOHP:0004322
- Spastic diplegiaHPOHP:0001264
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.
- COXFA4HGNC:7687
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 21
- Also called
- MC4DN21