mitochondrial complex IV deficiency, nuclear type 17
MONDO:0033652Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 17 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
- Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Cavitating leukodystrophyHPOHP:0033369
- 6 of 6 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 6 of 6 reported patients
- Developmental regressionHPOHP:0002376
- 5 of 6 reported patients
- Spastic tetraparesisHPOHP:0001285
- 5 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 6 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 3 of 6 reported patients
- AtaxiaHPOHP:0001251
- 2 of 6 reported patients
- DysarthriaHPOHP:0001260
- 2 of 6 reported patients
- SeizureHPOHP:0001250
- 2 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 6 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
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.
- COA8HGNC:20492
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 17
- Also called
- MC4DN17