combined oxidative phosphorylation deficiency 44
MONDO:0030020Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 44 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
12 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.
- DyskinesiaHPOHP:0100660
- 2 of 3 reported patients · Childhood onset
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients · Infantile onset
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 3 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 3 reported patients · Juvenile onset
- Hyporeflexia of lower limbsHPOHP:0002600
- 1 of 3 reported patients
- NystagmusHPOHP:0000639
- 1 of 3 reported patients
- Slurred speechHPOHP:0001350
- 1 of 3 reported patients
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Delayed ability to walkHPOHP:0031936
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.
- FASTKD2HGNC:29160
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 44
- Also called
- COXPD44