cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Findings
No curated finding names cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.
Definition from the Mondo Disease Ontology (MONDO:0014051), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
10 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.
- Bilateral basal ganglia lesionsHPOHP:0007146
- 1 of 1 reported patient
- Bloody diarrheaHPOHP:0025085
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
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.
- COX15HGNC:2263
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
- Also called
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2COX15 fatal infantile encephalocardiomyopathyfatal infantile encephalocardiomyopathy caused by mutation in COX15mitochondrial complex IV deficiency, nuclear type 6