mitochondrial complex IV deficiency, nuclear type 8
MONDO:0033638Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 8 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
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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
- Focal T2 hyperintense basal ganglia lesionHPOHP:0007183
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 3 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 2 of 5 reported patients
- DysarthriaHPOHP:0001260
- 2 of 5 reported patients
- Perseverative thoughtHPOHP:0030223
- 2 of 5 reported patients
- BradykinesiaHPOHP:0002067
- 1 of 5 reported patients
- HemidystoniaHPOHP:0032005
- 1 of 5 reported patients
- Severe temper tantrumsHPOHP:0025162
- 1 of 5 reported patients
- Short statureHPOHP:0004322
- 1 of 5 reported patients
- Spastic gaitHPOHP:0002064
- 1 of 5 reported patients
Show the remaining 1
- Spastic tetraparesisHPOHP:0001285
- 1 of 5 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.
- TACO1HGNC:24316
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 8
- Also called
- MC4DN8